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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: 14-23415991-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23415991&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23415991,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_000257.4",
"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": 40,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.4953+13A>T",
"hgvs_p": null,
"transcript": "NM_000257.4",
"protein_id": "NP_000248.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1935,
"cds_start": null,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355349.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000257.4"
},
{
"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": 40,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.4953+13A>T",
"hgvs_p": null,
"transcript": "ENST00000355349.4",
"protein_id": "ENSP00000347507.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1935,
"cds_start": null,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000257.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355349.4"
},
{
"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": 40,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.4953+13A>T",
"hgvs_p": null,
"transcript": "ENST00000858540.1",
"protein_id": "ENSP00000528599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1950,
"cds_start": null,
"cds_end": null,
"cds_length": 5853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858540.1"
},
{
"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": 40,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.4953+13A>T",
"hgvs_p": null,
"transcript": "ENST00000965955.1",
"protein_id": "ENSP00000636014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1950,
"cds_start": null,
"cds_end": null,
"cds_length": 5853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965955.1"
},
{
"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": 41,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.4953+13A>T",
"hgvs_p": null,
"transcript": "ENST00000713768.1",
"protein_id": "ENSP00000519070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1944,
"cds_start": null,
"cds_end": null,
"cds_length": 5835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713768.1"
},
{
"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": 40,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.4980+13A>T",
"hgvs_p": null,
"transcript": "ENST00000858547.1",
"protein_id": "ENSP00000528606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1944,
"cds_start": null,
"cds_end": null,
"cds_length": 5835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858547.1"
},
{
"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": 40,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.4977+13A>T",
"hgvs_p": null,
"transcript": "ENST00000965946.1",
"protein_id": "ENSP00000636005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1943,
"cds_start": null,
"cds_end": null,
"cds_length": 5832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965946.1"
},
{
"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": 40,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.4968+13A>T",
"hgvs_p": null,
"transcript": "ENST00000858544.1",
"protein_id": "ENSP00000528603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1940,
"cds_start": null,
"cds_end": null,
"cds_length": 5823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858544.1"
},
{
"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": 39,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.4953+13A>T",
"hgvs_p": null,
"transcript": "NM_001407004.1",
"protein_id": "NP_001393933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1935,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407004.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.4953+13A>T",
"hgvs_p": null,
"transcript": "ENST00000713769.1",
"protein_id": "ENSP00000519071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713769.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 40,
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"gene_symbol": "MYH7",
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"hgvs_c": "c.4953+13A>T",
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"transcript": "ENST00000858541.1",
"protein_id": "ENSP00000528600.1",
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"biotype": "protein_coding",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "MYH7",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "MYH7",
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"hgvs_c": "c.4953+13A>T",
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"feature": "ENST00000858546.1"
},
{
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],
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"gene_symbol": "MYH7",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.4953+13A>T",
"hgvs_p": null,
"transcript": "ENST00000858550.1",
"protein_id": "ENSP00000528609.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 32,
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"gene_symbol": "MYH7",
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"hgvs_c": "c.4953+13A>T",
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"transcript": "ENST00000858551.1",
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},
{
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],
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"gene_symbol": "MYH7",
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"hgvs_c": "c.4953+13A>T",
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"transcript": "ENST00000965935.1",
"protein_id": "ENSP00000635994.1",
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"feature": "ENST00000965935.1"
},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 34,
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"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.4953+13A>T",
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"transcript": "ENST00000965936.1",
"protein_id": "ENSP00000635995.1",
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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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"transcript": "ENST00000965941.1",
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"feature": "ENST00000965941.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.4953+13A>T",
"hgvs_p": null,
"transcript": "ENST00000965942.1",
"protein_id": "ENSP00000636001.1",
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},
{
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],
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"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_000257.4",
"gene_symbol": "MYH7",
"hgnc_id": 7577,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4953+13A>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NR_126491.1",
"gene_symbol": "MHRT",
"hgnc_id": 51291,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.262-10T>A",
"hgvs_p": null
}
],
"clinvar_disease": "6 conditions,Hypertrophic cardiomyopathy,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "not specified|Hypertrophic cardiomyopathy|6 conditions",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}