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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: 14-23414101-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23414101&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23414101,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_000257.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met",
"transcript": "NM_000257.4",
"protein_id": "NP_000248.2",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5561,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 5666,
"cdna_end": null,
"cdna_length": 6027,
"mane_select": "ENST00000355349.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000257.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met",
"transcript": "ENST00000355349.4",
"protein_id": "ENSP00000347507.3",
"transcript_support_level": 1,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5561,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 5666,
"cdna_end": null,
"cdna_length": 6027,
"mane_select": "NM_000257.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355349.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5606C>T",
"hgvs_p": "p.Thr1869Met",
"transcript": "ENST00000858540.1",
"protein_id": "ENSP00000528599.1",
"transcript_support_level": null,
"aa_start": 1869,
"aa_end": null,
"aa_length": 1950,
"cds_start": 5606,
"cds_end": null,
"cds_length": 5853,
"cdna_start": 5711,
"cdna_end": null,
"cdna_length": 6074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858540.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5606C>T",
"hgvs_p": "p.Thr1869Met",
"transcript": "ENST00000965955.1",
"protein_id": "ENSP00000636014.1",
"transcript_support_level": null,
"aa_start": 1869,
"aa_end": null,
"aa_length": 1950,
"cds_start": 5606,
"cds_end": null,
"cds_length": 5853,
"cdna_start": 5808,
"cdna_end": null,
"cdna_length": 6166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965955.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met",
"transcript": "ENST00000713768.1",
"protein_id": "ENSP00000519070.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1944,
"cds_start": 5561,
"cds_end": null,
"cds_length": 5835,
"cdna_start": 5666,
"cdna_end": null,
"cdna_length": 6103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713768.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5588C>T",
"hgvs_p": "p.Thr1863Met",
"transcript": "ENST00000858547.1",
"protein_id": "ENSP00000528606.1",
"transcript_support_level": null,
"aa_start": 1863,
"aa_end": null,
"aa_length": 1944,
"cds_start": 5588,
"cds_end": null,
"cds_length": 5835,
"cdna_start": 5693,
"cdna_end": null,
"cdna_length": 6052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858547.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5585C>T",
"hgvs_p": "p.Thr1862Met",
"transcript": "ENST00000965946.1",
"protein_id": "ENSP00000636005.1",
"transcript_support_level": null,
"aa_start": 1862,
"aa_end": null,
"aa_length": 1943,
"cds_start": 5585,
"cds_end": null,
"cds_length": 5832,
"cdna_start": 5692,
"cdna_end": null,
"cdna_length": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965946.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5576C>T",
"hgvs_p": "p.Thr1859Met",
"transcript": "ENST00000858544.1",
"protein_id": "ENSP00000528603.1",
"transcript_support_level": null,
"aa_start": 1859,
"aa_end": null,
"aa_length": 1940,
"cds_start": 5576,
"cds_end": null,
"cds_length": 5823,
"cdna_start": 5682,
"cdna_end": null,
"cdna_length": 6041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858544.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met",
"transcript": "NM_001407004.1",
"protein_id": "NP_001393933.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5561,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 5610,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407004.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met",
"transcript": "ENST00000713769.1",
"protein_id": "ENSP00000519071.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5561,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 5610,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713769.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met",
"transcript": "ENST00000858541.1",
"protein_id": "ENSP00000528600.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5561,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 5683,
"cdna_end": null,
"cdna_length": 6044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858541.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met",
"transcript": "ENST00000858545.1",
"protein_id": "ENSP00000528604.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5561,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 5687,
"cdna_end": null,
"cdna_length": 6046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858545.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met",
"transcript": "ENST00000858546.1",
"protein_id": "ENSP00000528605.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5561,
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"cdna_start": 5685,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858546.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met",
"transcript": "ENST00000858549.1",
"protein_id": "ENSP00000528608.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5561,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 5732,
"cdna_end": null,
"cdna_length": 6093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858549.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met",
"transcript": "ENST00000858550.1",
"protein_id": "ENSP00000528609.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5561,
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"cdna_start": 5682,
"cdna_end": null,
"cdna_length": 6043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858550.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met",
"transcript": "ENST00000858551.1",
"protein_id": "ENSP00000528610.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5561,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 5643,
"cdna_end": null,
"cdna_length": 6002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858551.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met",
"transcript": "ENST00000965935.1",
"protein_id": "ENSP00000635994.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5561,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 5821,
"cdna_end": null,
"cdna_length": 6181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965935.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met",
"transcript": "ENST00000965936.1",
"protein_id": "ENSP00000635995.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5561,
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"cdna_start": 5787,
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"cdna_length": 6147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965936.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met",
"transcript": "ENST00000965937.1",
"protein_id": "ENSP00000635996.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5561,
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"cdna_start": 7088,
"cdna_end": null,
"cdna_length": 7448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965937.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met",
"transcript": "ENST00000965938.1",
"protein_id": "ENSP00000635997.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5561,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 5738,
"cdna_end": null,
"cdna_length": 6106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965938.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met",
"transcript": "ENST00000965941.1",
"protein_id": "ENSP00000636000.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5561,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 7088,
"cdna_end": null,
"cdna_length": 7448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965941.1"
},
{
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"dbsnp": "rs372381770",
"frequency_reference_population": 0.00002791681,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000287716,
"gnomad_genomes_af": 0.0000197161,
"gnomad_exomes_ac": 42,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6814138889312744,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0.7919999957084656,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.815,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1098,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.971,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.973735772064927,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2,PP3,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PP2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000257.4",
"gene_symbol": "MYH7",
"hgnc_id": 7577,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.5561C>T",
"hgvs_p": "p.Thr1854Met"
}
],
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Hypertrophic cardiomyopathy,Hypertrophic cardiomyopathy 1,Primary familial hypertrophic cardiomyopathy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:3 US:7",
"phenotype_combined": "Primary familial hypertrophic cardiomyopathy|not provided|Hypertrophic cardiomyopathy|Cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 1",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}