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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: 14-23412855-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23412855&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM4"
],
"effects": [
"stop_lost"
],
"gene_symbol": "MYH7",
"hgnc_id": 7577,
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
"inheritance_mode": "AD,AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_000257.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.23999999463558197,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "*",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6027,
"cdna_start": 5912,
"cds_end": null,
"cds_length": 5808,
"cds_start": 5807,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_000257.4",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "*",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6027,
"cdna_start": 5912,
"cds_end": null,
"cds_length": 5808,
"cds_start": 5807,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000355349.4",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1950,
"aa_ref": "*",
"aa_start": 1951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6074,
"cdna_start": 5957,
"cds_end": null,
"cds_length": 5853,
"cds_start": 5852,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000858540.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5852A>T",
"hgvs_p": "p.Ter1951Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1950,
"aa_ref": "*",
"aa_start": 1951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6166,
"cdna_start": 6054,
"cds_end": null,
"cds_length": 5853,
"cds_start": 5852,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000965955.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5852A>T",
"hgvs_p": "p.Ter1951Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1944,
"aa_ref": "*",
"aa_start": 1945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6052,
"cdna_start": 5939,
"cds_end": null,
"cds_length": 5835,
"cds_start": 5834,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000858547.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5834A>T",
"hgvs_p": "p.Ter1945Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1943,
"aa_ref": "*",
"aa_start": 1944,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6054,
"cdna_start": 5938,
"cds_end": null,
"cds_length": 5832,
"cds_start": 5831,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000965946.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5831A>T",
"hgvs_p": "p.Ter1944Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1940,
"aa_ref": "*",
"aa_start": 1941,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6041,
"cdna_start": 5928,
"cds_end": null,
"cds_length": 5823,
"cds_start": 5822,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000858544.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5822A>T",
"hgvs_p": "p.Ter1941Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "*",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 5856,
"cds_end": null,
"cds_length": 5808,
"cds_start": 5807,
"consequences": [
"stop_lost"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001407004.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "*",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 5856,
"cds_end": null,
"cds_length": 5808,
"cds_start": 5807,
"consequences": [
"stop_lost"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000713769.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "*",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6044,
"cdna_start": 5929,
"cds_end": null,
"cds_length": 5808,
"cds_start": 5807,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000858541.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "*",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6046,
"cdna_start": 5933,
"cds_end": null,
"cds_length": 5808,
"cds_start": 5807,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000858545.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "*",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6044,
"cdna_start": 5931,
"cds_end": null,
"cds_length": 5808,
"cds_start": 5807,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000858546.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "*",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6093,
"cdna_start": 5978,
"cds_end": null,
"cds_length": 5808,
"cds_start": 5807,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000858549.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "*",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6043,
"cdna_start": 5928,
"cds_end": null,
"cds_length": 5808,
"cds_start": 5807,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000858550.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "*",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6002,
"cdna_start": 5889,
"cds_end": null,
"cds_length": 5808,
"cds_start": 5807,
"consequences": [
"stop_lost"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000858551.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "*",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6181,
"cdna_start": 6067,
"cds_end": null,
"cds_length": 5808,
"cds_start": 5807,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000965935.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "*",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6147,
"cdna_start": 6033,
"cds_end": null,
"cds_length": 5808,
"cds_start": 5807,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000965936.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "*",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7448,
"cdna_start": 7334,
"cds_end": null,
"cds_length": 5808,
"cds_start": 5807,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000965937.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "*",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6106,
"cdna_start": 5984,
"cds_end": null,
"cds_length": 5808,
"cds_start": 5807,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000965938.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
"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": "L",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "*",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7448,
"cdna_start": 7334,
"cds_end": null,
"cds_length": 5808,
"cds_start": 5807,
"consequences": [
"stop_lost"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000965941.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636000.1",
"strand": false,
"transcript": "ENST00000965941.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "*",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6133,
"cdna_start": 6015,
"cds_end": null,
"cds_length": 5808,
"cds_start": 5807,
"consequences": [
"stop_lost"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000965942.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.5807A>T",
"hgvs_p": "p.Ter1936Leuext*?",
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"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.934,
"pos": 23412855,
"ref": "T",
"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"
}
]
}