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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: 14-23415095-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23415095&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23415095,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000257.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "NM_000257.4",
"protein_id": "NP_000248.2",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5459,
"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": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "ENST00000355349.4",
"protein_id": "ENSP00000347507.3",
"transcript_support_level": 1,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5459,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5504G>A",
"hgvs_p": "p.Arg1835Gln",
"transcript": "ENST00000858540.1",
"protein_id": "ENSP00000528599.1",
"transcript_support_level": null,
"aa_start": 1835,
"aa_end": null,
"aa_length": 1950,
"cds_start": 5504,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5504G>A",
"hgvs_p": "p.Arg1835Gln",
"transcript": "ENST00000965955.1",
"protein_id": "ENSP00000636014.1",
"transcript_support_level": null,
"aa_start": 1835,
"aa_end": null,
"aa_length": 1950,
"cds_start": 5504,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "ENST00000713768.1",
"protein_id": "ENSP00000519070.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1944,
"cds_start": 5459,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5486G>A",
"hgvs_p": "p.Arg1829Gln",
"transcript": "ENST00000858547.1",
"protein_id": "ENSP00000528606.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1944,
"cds_start": 5486,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5483G>A",
"hgvs_p": "p.Arg1828Gln",
"transcript": "ENST00000965946.1",
"protein_id": "ENSP00000636005.1",
"transcript_support_level": null,
"aa_start": 1828,
"aa_end": null,
"aa_length": 1943,
"cds_start": 5483,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5474G>A",
"hgvs_p": "p.Arg1825Gln",
"transcript": "ENST00000858544.1",
"protein_id": "ENSP00000528603.1",
"transcript_support_level": null,
"aa_start": 1825,
"aa_end": null,
"aa_length": 1940,
"cds_start": 5474,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "NM_001407004.1",
"protein_id": "NP_001393933.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5459,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407004.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "ENST00000713769.1",
"protein_id": "ENSP00000519071.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5459,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713769.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "ENST00000858541.1",
"protein_id": "ENSP00000528600.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5459,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858541.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "ENST00000858545.1",
"protein_id": "ENSP00000528604.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5459,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858545.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "ENST00000858546.1",
"protein_id": "ENSP00000528605.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5459,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858546.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "ENST00000858549.1",
"protein_id": "ENSP00000528608.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5459,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858549.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "ENST00000858550.1",
"protein_id": "ENSP00000528609.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5459,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858550.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "ENST00000858551.1",
"protein_id": "ENSP00000528610.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5459,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858551.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "ENST00000965935.1",
"protein_id": "ENSP00000635994.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5459,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965935.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "ENST00000965936.1",
"protein_id": "ENSP00000635995.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5459,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965936.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "ENST00000965937.1",
"protein_id": "ENSP00000635996.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5459,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965937.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "ENST00000965938.1",
"protein_id": "ENSP00000635997.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5459,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965938.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "ENST00000965941.1",
"protein_id": "ENSP00000636000.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5459,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965941.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln",
"transcript": "ENST00000965942.1",
"protein_id": "ENSP00000636001.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5459,
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"computational_score_selected": 0.492216557264328,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.661,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1612,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.626,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2,PP3",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000257.4",
"gene_symbol": "MYH7",
"hgnc_id": 7577,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5459G>A",
"hgvs_p": "p.Arg1820Gln"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000557368.1",
"gene_symbol": "ENSG00000258444",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-244C>T",
"hgvs_p": null
}
],
"clinvar_disease": "6 conditions,Cardiomyopathy,Cardiovascular phenotype,Hypertrophic cardiomyopathy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:8",
"phenotype_combined": "not specified|not provided|Hypertrophic cardiomyopathy|Cardiomyopathy|6 conditions|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}