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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: 1-46197689-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46197689&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46197689,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000371984.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.120+13C>T",
"hgvs_p": null,
"transcript": "NM_017739.4",
"protein_id": "NP_060209.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 660,
"cds_start": -4,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": "ENST00000371984.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.120+13C>T",
"hgvs_p": null,
"transcript": "ENST00000371984.8",
"protein_id": "ENSP00000361052.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 660,
"cds_start": -4,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": "NM_017739.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.120+13C>T",
"hgvs_p": null,
"transcript": "NM_001243766.2",
"protein_id": "NP_001230695.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 748,
"cds_start": -4,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.120+13C>T",
"hgvs_p": null,
"transcript": "ENST00000371992.1",
"protein_id": "ENSP00000361060.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 748,
"cds_start": -4,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.120+13C>T",
"hgvs_p": null,
"transcript": "NM_001410783.1",
"protein_id": "NP_001397712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 718,
"cds_start": -4,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.120+13C>T",
"hgvs_p": null,
"transcript": "NM_001438686.1",
"protein_id": "NP_001425615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 718,
"cds_start": -4,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.120+13C>T",
"hgvs_p": null,
"transcript": "NM_001438688.1",
"protein_id": "NP_001425617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 718,
"cds_start": -4,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.120+13C>T",
"hgvs_p": null,
"transcript": "ENST00000692369.1",
"protein_id": "ENSP00000508453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 718,
"cds_start": -4,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.120+13C>T",
"hgvs_p": null,
"transcript": "ENST00000687149.1",
"protein_id": "ENSP00000509745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.120+13C>T",
"hgvs_p": null,
"transcript": "NM_001437653.1",
"protein_id": "NP_001424582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 660,
"cds_start": -4,
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"cds_length": 1983,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.120+13C>T",
"hgvs_p": null,
"transcript": "NM_001438689.1",
"protein_id": "NP_001425618.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"transcript": "ENST00000396420.8",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "POMGNT1",
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"hgvs_c": "c.120+13C>T",
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"transcript": "ENST00000686737.1",
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},
{
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],
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"gene_symbol": "POMGNT1",
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"hgvs_c": "c.120+13C>T",
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},
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],
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"gene_symbol": "POMGNT1",
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"transcript": "NM_001290129.3",
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},
{
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],
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"gene_symbol": "POMGNT1",
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},
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],
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"hgvs_c": "c.-189+13C>T",
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.120+13C>T",
"hgvs_p": null,
"transcript": "ENST00000685444.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "POMGNT1",
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},
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],
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},
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],
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},
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],
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"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
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"transcript": "ENST00000497439.6",
"protein_id": null,
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},
{
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
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"hgvs_c": "n.288+13C>T",
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},
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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{
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"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
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"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000371984.8",
"gene_symbol": "POMGNT1",
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"inheritance_mode": "AR,AD",
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],
"clinvar_disease": " alpha-dystroglycan related, type B3,Autosomal recessive limb-girdle muscular dystrophy type 2O,Congenital Muscular Dystrophy,Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability),not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:3",
"phenotype_combined": "not specified|Autosomal recessive limb-girdle muscular dystrophy type 2O|Congenital Muscular Dystrophy, alpha-dystroglycan related|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}