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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: 1-227733422-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=227733422&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 227733422,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_023007.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD4",
"gene_hgnc_id": 25724,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.His272Tyr",
"transcript": "NM_023007.3",
"protein_id": "NP_075383.3",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 417,
"cds_start": 814,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000620518.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023007.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD4",
"gene_hgnc_id": 25724,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.His272Tyr",
"transcript": "ENST00000620518.5",
"protein_id": "ENSP00000477669.1",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 417,
"cds_start": 814,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023007.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620518.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD4",
"gene_hgnc_id": 25724,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.His278Tyr",
"transcript": "ENST00000857562.1",
"protein_id": "ENSP00000527621.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 423,
"cds_start": 832,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857562.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD4",
"gene_hgnc_id": 25724,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.His271Tyr",
"transcript": "ENST00000972391.1",
"protein_id": "ENSP00000642450.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 416,
"cds_start": 811,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972391.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD4",
"gene_hgnc_id": 25724,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.His260Tyr",
"transcript": "ENST00000972390.1",
"protein_id": "ENSP00000642449.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 405,
"cds_start": 778,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972390.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD4",
"gene_hgnc_id": 25724,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.His272Tyr",
"transcript": "NM_001161465.2",
"protein_id": "NP_001154937.2",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 401,
"cds_start": 814,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161465.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD4",
"gene_hgnc_id": 25724,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.His272Tyr",
"transcript": "ENST00000438896.3",
"protein_id": "ENSP00000387830.3",
"transcript_support_level": 2,
"aa_start": 272,
"aa_end": null,
"aa_length": 401,
"cds_start": 814,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438896.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD4",
"gene_hgnc_id": 25724,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.His272Tyr",
"transcript": "ENST00000857555.1",
"protein_id": "ENSP00000527614.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 393,
"cds_start": 814,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857555.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD4",
"gene_hgnc_id": 25724,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.His272Tyr",
"transcript": "ENST00000857560.1",
"protein_id": "ENSP00000527619.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 392,
"cds_start": 814,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857560.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD4",
"gene_hgnc_id": 25724,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.His260Tyr",
"transcript": "ENST00000857559.1",
"protein_id": "ENSP00000527618.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 381,
"cds_start": 778,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857559.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD4",
"gene_hgnc_id": 25724,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.His230Tyr",
"transcript": "ENST00000857563.1",
"protein_id": "ENSP00000527622.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 375,
"cds_start": 688,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857563.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD4",
"gene_hgnc_id": 25724,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.His272Tyr",
"transcript": "ENST00000857554.1",
"protein_id": "ENSP00000527613.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 368,
"cds_start": 814,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857554.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD4",
"gene_hgnc_id": 25724,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.His272Tyr",
"transcript": "XM_011544262.4",
"protein_id": "XP_011542564.2",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 368,
"cds_start": 814,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544262.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.-142G>A",
"hgvs_p": null,
"transcript": "ENST00000679575.1",
"protein_id": "ENSP00000505941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679575.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.-142G>A",
"hgvs_p": null,
"transcript": "ENST00000681447.1",
"protein_id": "ENSP00000505540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681447.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.-1988G>A",
"hgvs_p": null,
"transcript": "XM_017000232.2",
"protein_id": "XP_016855721.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000232.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.-1988G>A",
"hgvs_p": null,
"transcript": "XM_047444119.1",
"protein_id": "XP_047300075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444119.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.-46+4636G>A",
"hgvs_p": null,
"transcript": "NM_001323930.2",
"protein_id": "NP_001310859.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323930.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.-46+1675G>A",
"hgvs_p": null,
"transcript": "NM_001323932.2",
"protein_id": "NP_001310861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323932.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.-46+1675G>A",
"hgvs_p": null,
"transcript": "NM_001323933.2",
"protein_id": "NP_001310862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323933.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.-46+1675G>A",
"hgvs_p": null,
"transcript": "ENST00000680854.1",
"protein_id": "ENSP00000505610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680854.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.-46+4636G>A",
"hgvs_p": null,
"transcript": "ENST00000680992.1",
"protein_id": "ENSP00000505843.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680992.1"
},
{
"aa_ref": null,
"aa_alt": null,
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"verdict": "Uncertain_significance",
"transcript": "NM_001323930.2",
"gene_symbol": "SNAP47",
"hgnc_id": 30669,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-46+4636G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}