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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: 2-151561322-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151561322&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151561322,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001164508.2",
"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": 182,
"intron_rank": 121,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.18997-10T>G",
"hgvs_p": null,
"transcript": "NM_001164507.2",
"protein_id": "NP_001157979.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8525,
"cds_start": -4,
"cds_end": null,
"cds_length": 25578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": null,
"mane_plus": "ENST00000427231.7",
"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": 182,
"intron_rank": 121,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.18997-10T>G",
"hgvs_p": null,
"transcript": "NM_001164508.2",
"protein_id": "NP_001157980.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8525,
"cds_start": -4,
"cds_end": null,
"cds_length": 25578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "ENST00000397345.8",
"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": 182,
"intron_rank": 121,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.18997-10T>G",
"hgvs_p": null,
"transcript": "ENST00000397345.8",
"protein_id": "ENSP00000380505.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 8525,
"cds_start": -4,
"cds_end": null,
"cds_length": 25578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "NM_001164508.2",
"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": 182,
"intron_rank": 121,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.18997-10T>G",
"hgvs_p": null,
"transcript": "ENST00000427231.7",
"protein_id": "ENSP00000416578.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 8525,
"cds_start": -4,
"cds_end": null,
"cds_length": 25578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": null,
"mane_plus": "NM_001164507.2",
"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": 183,
"intron_rank": 121,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.18997-10T>G",
"hgvs_p": null,
"transcript": "NM_001271208.2",
"protein_id": "NP_001258137.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8560,
"cds_start": -4,
"cds_end": null,
"cds_length": 25683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 26296,
"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": 150,
"intron_rank": 94,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.13894-10T>G",
"hgvs_p": null,
"transcript": "NM_004543.5",
"protein_id": "NP_004534.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6669,
"cds_start": -4,
"cds_end": null,
"cds_length": 20010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20623,
"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": 150,
"intron_rank": 94,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.13894-10T>G",
"hgvs_p": null,
"transcript": "ENST00000409198.5",
"protein_id": "ENSP00000386259.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 6669,
"cds_start": -4,
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"cds_length": 20010,
"cdna_start": null,
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"cdna_length": 20637,
"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": 74,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.3187-10T>G",
"hgvs_p": null,
"transcript": "ENST00000413693.5",
"protein_id": "ENSP00000410961.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3007,
"cds_start": -4,
"cds_end": null,
"cds_length": 9024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9443,
"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": 62,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.1846-10T>G",
"hgvs_p": null,
"transcript": "ENST00000690043.1",
"protein_id": "ENSP00000509961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2426,
"cds_start": -4,
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"cds_length": 7281,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 181,
"intron_rank": 121,
"intron_rank_end": null,
"gene_symbol": "NEB",
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"hgvs_c": "c.18997-10T>G",
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"transcript": "XM_005246590.3",
"protein_id": "XP_005246647.1",
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 181,
"intron_rank": 121,
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"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.18997-10T>G",
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"transcript": "XM_005246591.3",
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},
{
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"strand": false,
"consequences": [
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],
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},
{
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],
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"gene_symbol": "NEB",
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},
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],
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"gene_symbol": "NEB",
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],
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},
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],
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"hgvs_c": "c.18997-10T>G",
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},
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],
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],
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"strand": false,
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],
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"gene_symbol": "NEB",
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"transcript": "XM_005246601.3",
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},
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"consequences": [
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],
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],
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"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_score": -6,
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"acmg_by_gene": [
{
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"BP6_Moderate"
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"verdict": "Likely_benign",
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"effects": [
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],
"clinvar_disease": "Nemaline myopathy 2",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Nemaline myopathy 2",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}