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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: 1-46189476-AC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46189476&ref=AC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46189476,
"ref": "AC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000371984.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1876delG",
"hgvs_p": "p.Val626fs",
"transcript": "NM_017739.4",
"protein_id": "NP_060209.4",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 660,
"cds_start": 1876,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": "ENST00000371984.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1876delG",
"hgvs_p": "p.Val626fs",
"transcript": "ENST00000371984.8",
"protein_id": "ENSP00000361052.3",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 660,
"cds_start": 1876,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": "NM_017739.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1876delG",
"hgvs_p": "p.Val626fs",
"transcript": "NM_001410783.1",
"protein_id": "NP_001397712.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 718,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1876delG",
"hgvs_p": "p.Val626fs",
"transcript": "NM_001438686.1",
"protein_id": "NP_001425615.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 718,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1876delG",
"hgvs_p": "p.Val626fs",
"transcript": "NM_001438688.1",
"protein_id": "NP_001425617.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 718,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 2391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1876delG",
"hgvs_p": "p.Val626fs",
"transcript": "ENST00000692369.1",
"protein_id": "ENSP00000508453.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 718,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1915delG",
"hgvs_p": "p.Val639fs",
"transcript": "ENST00000687149.1",
"protein_id": "ENSP00000509745.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 673,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1876delG",
"hgvs_p": "p.Val626fs",
"transcript": "NM_001437653.1",
"protein_id": "NP_001424582.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 660,
"cds_start": 1876,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1876delG",
"hgvs_p": "p.Val626fs",
"transcript": "NM_001438689.1",
"protein_id": "NP_001425618.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 660,
"cds_start": 1876,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1876delG",
"hgvs_p": "p.Val626fs",
"transcript": "ENST00000396420.8",
"protein_id": "ENSP00000379698.4",
"transcript_support_level": 2,
"aa_start": 626,
"aa_end": null,
"aa_length": 660,
"cds_start": 1876,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2010,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1876delG",
"hgvs_p": "p.Val626fs",
"transcript": "ENST00000686737.1",
"protein_id": "ENSP00000508736.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 660,
"cds_start": 1876,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1876delG",
"hgvs_p": "p.Val626fs",
"transcript": "ENST00000687683.1",
"protein_id": "ENSP00000508522.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 660,
"cds_start": 1876,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1810delG",
"hgvs_p": "p.Val604fs",
"transcript": "NM_001290129.3",
"protein_id": "NP_001277058.2",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 638,
"cds_start": 1810,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2267,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1810delG",
"hgvs_p": "p.Val604fs",
"transcript": "NM_001438691.1",
"protein_id": "NP_001425620.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
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"cds_start": 1810,
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"cdna_start": 2267,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1810delG",
"hgvs_p": "p.Val604fs",
"transcript": "NM_001438692.1",
"protein_id": "NP_001425621.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 638,
"cds_start": 1810,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1777delG",
"hgvs_p": "p.Val593fs",
"transcript": "ENST00000685444.1",
"protein_id": "ENSP00000510762.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 627,
"cds_start": 1777,
"cds_end": null,
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"cdna_start": 1945,
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"cdna_length": 2635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1777delG",
"hgvs_p": "p.Val593fs",
"transcript": "ENST00000688608.1",
"protein_id": "ENSP00000508890.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 627,
"cds_start": 1777,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1447delG",
"hgvs_p": "p.Val483fs",
"transcript": "NM_001290130.2",
"protein_id": "NP_001277059.2",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 517,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1914,
"cdna_end": null,
"cdna_length": 2347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "n.91delG",
"hgvs_p": null,
"transcript": "ENST00000475642.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "n.2048delG",
"hgvs_p": null,
"transcript": "ENST00000497439.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "n.2236delG",
"hgvs_p": null,
"transcript": "ENST00000684817.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "n.2438delG",
"hgvs_p": null,
"transcript": "ENST00000684898.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "n.*1186delG",
"hgvs_p": null,
"transcript": "ENST00000685230.1",
"protein_id": "ENSP00000510305.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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}
],
"clinvar_disease": " type A3, type B3,Autosomal recessive limb-girdle muscular dystrophy type 2O,Muscle eye brain disease,Muscular dystrophy-dystroglycanopathy,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability),Retinitis pigmentosa 76",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:2",
"phenotype_combined": "Muscle eye brain disease|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscular dystrophy-dystroglycanopathy",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}