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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: 19-804184-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=804184&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 804184,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001411140.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Leu88Leu",
"transcript": "NM_002819.5",
"protein_id": "NP_002810.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 557,
"cds_start": 264,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356948.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002819.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Leu88Leu",
"transcript": "ENST00000356948.11",
"protein_id": "ENSP00000349428.4",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 557,
"cds_start": 264,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002819.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356948.11"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Leu88Leu",
"transcript": "ENST00000394601.8",
"protein_id": "ENSP00000408096.1",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 550,
"cds_start": 264,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394601.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Leu88Leu",
"transcript": "ENST00000349038.8",
"protein_id": "ENSP00000014112.5",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 531,
"cds_start": 264,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349038.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Leu58Leu",
"transcript": "ENST00000350092.8",
"protein_id": "ENSP00000342332.5",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 527,
"cds_start": 174,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350092.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.411C>T",
"hgvs_p": "p.Leu137Leu",
"transcript": "ENST00000893849.1",
"protein_id": "ENSP00000563908.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 606,
"cds_start": 411,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893849.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Leu88Leu",
"transcript": "ENST00000635647.1",
"protein_id": "ENSP00000489604.1",
"transcript_support_level": 5,
"aa_start": 88,
"aa_end": null,
"aa_length": 588,
"cds_start": 264,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635647.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Leu88Leu",
"transcript": "ENST00000893856.1",
"protein_id": "ENSP00000563915.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 564,
"cds_start": 264,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893856.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Leu88Leu",
"transcript": "ENST00000893851.1",
"protein_id": "ENSP00000563910.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 562,
"cds_start": 264,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893851.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Leu90Leu",
"transcript": "NM_001411140.1",
"protein_id": "NP_001398069.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 559,
"cds_start": 270,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411140.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Leu90Leu",
"transcript": "ENST00000679114.1",
"protein_id": "ENSP00000504829.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 559,
"cds_start": 270,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679114.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Leu88Leu",
"transcript": "NM_031990.4",
"protein_id": "NP_114367.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 550,
"cds_start": 264,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031990.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Leu88Leu",
"transcript": "ENST00000893855.1",
"protein_id": "ENSP00000563914.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 550,
"cds_start": 264,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893855.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Leu88Leu",
"transcript": "ENST00000893854.1",
"protein_id": "ENSP00000563913.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 549,
"cds_start": 264,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893854.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Leu88Leu",
"transcript": "ENST00000893857.1",
"protein_id": "ENSP00000563916.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 545,
"cds_start": 264,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893857.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Leu88Leu",
"transcript": "NM_031991.4",
"protein_id": "NP_114368.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 531,
"cds_start": 264,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031991.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Leu88Leu",
"transcript": "ENST00000893852.1",
"protein_id": "ENSP00000563911.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 513,
"cds_start": 264,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893852.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Leu88Leu",
"transcript": "ENST00000893850.1",
"protein_id": "ENSP00000563909.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 309,
"cds_start": 264,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893850.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Leu88Leu",
"transcript": "ENST00000589575.5",
"protein_id": "ENSP00000465652.2",
"transcript_support_level": 3,
"aa_start": 88,
"aa_end": null,
"aa_length": 236,
"cds_start": 264,
"cds_end": null,
"cds_length": 713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589575.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Leu58Leu",
"transcript": "ENST00000586481.5",
"protein_id": "ENSP00000468565.3",
"transcript_support_level": 3,
"aa_start": 58,
"aa_end": null,
"aa_length": 148,
"cds_start": 174,
"cds_end": null,
"cds_length": 448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586481.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.207C>T",
"hgvs_p": "p.Leu69Leu",
"transcript": "ENST00000585535.2",
"protein_id": "ENSP00000466250.2",
"transcript_support_level": 3,
"aa_start": 69,
"aa_end": null,
"aa_length": 103,
"cds_start": 207,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585535.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Leu90Leu",
"transcript": "XM_005259598.3",
"protein_id": "XP_005259655.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 533,
"cds_start": 270,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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],
"gene_symbol": "PTBP1",
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"dbsnp": "rs61757784",
"frequency_reference_population": 0.004022264,
"hom_count_reference_population": 18,
"allele_count_reference_population": 6472,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.49000000953674316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.042,
"phylop100way_prediction": "Benign",
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001411140.1",
"gene_symbol": "PTBP1",
"hgnc_id": 9583,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.270C>T",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}