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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: X-47181315-CAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47181315&ref=CAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 47181315,
"ref": "CAG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001204468.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1352_1353delAG",
"hgvs_p": "p.Glu451fs",
"transcript": "NM_005676.5",
"protein_id": "NP_005667.2",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 930,
"cds_start": 1352,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377604.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005676.5"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1352_1353delAG",
"hgvs_p": "p.Glu451fs",
"transcript": "ENST00000377604.8",
"protein_id": "ENSP00000366829.3",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 930,
"cds_start": 1352,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005676.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377604.8"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1547_1548delAG",
"hgvs_p": "p.Glu516fs",
"transcript": "ENST00000329236.8",
"protein_id": "ENSP00000328848.8",
"transcript_support_level": 1,
"aa_start": 516,
"aa_end": null,
"aa_length": 995,
"cds_start": 1547,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329236.8"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1118_1119delAG",
"hgvs_p": "p.Glu373fs",
"transcript": "ENST00000628161.2",
"protein_id": "ENSP00000486115.1",
"transcript_support_level": 1,
"aa_start": 373,
"aa_end": null,
"aa_length": 852,
"cds_start": 1118,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628161.2"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1547_1548delAG",
"hgvs_p": "p.Glu516fs",
"transcript": "NM_001204468.2",
"protein_id": "NP_001191397.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 995,
"cds_start": 1547,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204468.2"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1544_1545delAG",
"hgvs_p": "p.Glu515fs",
"transcript": "NM_001440861.1",
"protein_id": "NP_001427790.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 994,
"cds_start": 1544,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440861.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1490_1491delAG",
"hgvs_p": "p.Glu497fs",
"transcript": "ENST00000916920.1",
"protein_id": "ENSP00000586979.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 976,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916920.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1490_1491delAG",
"hgvs_p": "p.Glu497fs",
"transcript": "ENST00000916922.1",
"protein_id": "ENSP00000586981.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 976,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916922.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1487_1488delAG",
"hgvs_p": "p.Glu496fs",
"transcript": "ENST00000916921.1",
"protein_id": "ENSP00000586980.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 975,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916921.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1487_1488delAG",
"hgvs_p": "p.Glu496fs",
"transcript": "ENST00000916923.1",
"protein_id": "ENSP00000586982.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 975,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916923.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1487_1488delAG",
"hgvs_p": "p.Glu496fs",
"transcript": "ENST00000916926.1",
"protein_id": "ENSP00000586985.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 975,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916926.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1352_1353delAG",
"hgvs_p": "p.Glu451fs",
"transcript": "ENST00000864489.1",
"protein_id": "ENSP00000534548.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 940,
"cds_start": 1352,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864489.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1349_1350delAG",
"hgvs_p": "p.Glu450fs",
"transcript": "ENST00000864491.1",
"protein_id": "ENSP00000534550.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 939,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864491.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1349_1350delAG",
"hgvs_p": "p.Glu450fs",
"transcript": "ENST00000864492.1",
"protein_id": "ENSP00000534551.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 939,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864492.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1352_1353delAG",
"hgvs_p": "p.Glu451fs",
"transcript": "ENST00000864501.1",
"protein_id": "ENSP00000534560.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 930,
"cds_start": 1352,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864501.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1349_1350delAG",
"hgvs_p": "p.Glu450fs",
"transcript": "NM_001204467.2",
"protein_id": "NP_001191396.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 929,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204467.2"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1349_1350delAG",
"hgvs_p": "p.Glu450fs",
"transcript": "ENST00000864483.1",
"protein_id": "ENSP00000534542.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 929,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864483.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1349_1350delAG",
"hgvs_p": "p.Glu450fs",
"transcript": "ENST00000864484.1",
"protein_id": "ENSP00000534543.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 929,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864484.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1349_1350delAG",
"hgvs_p": "p.Glu450fs",
"transcript": "ENST00000864485.1",
"protein_id": "ENSP00000534544.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 929,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864485.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1349_1350delAG",
"hgvs_p": "p.Glu450fs",
"transcript": "ENST00000864500.1",
"protein_id": "ENSP00000534559.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 929,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864500.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1349_1350delAG",
"hgvs_p": "p.Glu450fs",
"transcript": "ENST00000916927.1",
"protein_id": "ENSP00000586986.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 923,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916927.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1352_1353delAG",
"hgvs_p": "p.Glu451fs",
"transcript": "ENST00000864496.1",
"protein_id": "ENSP00000534555.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 921,
"cds_start": 1352,
"cds_end": null,
"cds_length": 2766,
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{
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"PP5_Very_Strong"
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],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}