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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: 14-23426035-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23426035&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MYH7",
"hgnc_id": 7577,
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_000257.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_score": -13,
"allele_count_reference_population": 82,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "14",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Hypertrophic cardiomyopathy,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8600000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6027,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_000257.4",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355349.4",
"protein_coding": true,
"protein_id": "NP_000248.2",
"strand": false,
"transcript": "NM_000257.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6027,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000355349.4",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000257.4",
"protein_coding": true,
"protein_id": "ENSP00000347507.3",
"strand": false,
"transcript": "ENST00000355349.4",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1950,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6074,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 5853,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000858540.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528599.1",
"strand": false,
"transcript": "ENST00000858540.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1950,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6166,
"cdna_start": 2293,
"cds_end": null,
"cds_length": 5853,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000965955.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636014.1",
"strand": false,
"transcript": "ENST00000965955.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1944,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6103,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 5835,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000713768.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519070.1",
"strand": false,
"transcript": "ENST00000713768.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1944,
"aa_ref": "G",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6052,
"cdna_start": 2223,
"cds_end": null,
"cds_length": 5835,
"cds_start": 2118,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000858547.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2118T>C",
"hgvs_p": "p.Gly706Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528606.1",
"strand": false,
"transcript": "ENST00000858547.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1943,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6054,
"cdna_start": 2198,
"cds_end": null,
"cds_length": 5832,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000965946.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636005.1",
"strand": false,
"transcript": "ENST00000965946.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1940,
"aa_ref": "G",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6041,
"cdna_start": 2212,
"cds_end": null,
"cds_length": 5823,
"cds_start": 2106,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000858544.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2106T>C",
"hgvs_p": "p.Gly702Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528603.1",
"strand": false,
"transcript": "ENST00000858544.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 2140,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001407004.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393933.1",
"strand": false,
"transcript": "NM_001407004.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 2140,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000713769.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519071.1",
"strand": false,
"transcript": "ENST00000713769.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6044,
"cdna_start": 2213,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000858541.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528600.1",
"strand": false,
"transcript": "ENST00000858541.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6046,
"cdna_start": 2217,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000858545.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528604.1",
"strand": false,
"transcript": "ENST00000858545.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6044,
"cdna_start": 2215,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000858546.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528605.1",
"strand": false,
"transcript": "ENST00000858546.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6093,
"cdna_start": 2262,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000858549.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528608.1",
"strand": false,
"transcript": "ENST00000858549.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6043,
"cdna_start": 2212,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000858550.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528609.1",
"strand": false,
"transcript": "ENST00000858550.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6002,
"cdna_start": 2173,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000858551.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528610.1",
"strand": false,
"transcript": "ENST00000858551.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6181,
"cdna_start": 2351,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000965935.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635994.1",
"strand": false,
"transcript": "ENST00000965935.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1935,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6147,
"cdna_start": 2317,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000965936.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635995.1",
"strand": false,
"transcript": "ENST00000965936.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1935,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7448,
"cdna_start": 3618,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000965937.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635996.1",
"strand": false,
"transcript": "ENST00000965937.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6106,
"cdna_start": 2268,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000965938.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Gly697Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635997.1",
"strand": false,
"transcript": "ENST00000965938.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "G",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7448,
"cdna_start": 3618,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 18,
"exon_rank_end": null,
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"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 13,
"gnomad_genomes_af": 0.0000853388,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not specified|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy",
"phylop100way_prediction": "Benign",
"phylop100way_score": -5.719,
"pos": 23426035,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000257.4"
}
]
}