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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: 5-148544692-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=148544692&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 148544692,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001040173.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HTR4",
"gene_hgnc_id": 5299,
"hgvs_c": "c.353+3976A>T",
"hgvs_p": null,
"transcript": "NM_000870.7",
"protein_id": "NP_000861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": null,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377888.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000870.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HTR4",
"gene_hgnc_id": 5299,
"hgvs_c": "c.353+3976A>T",
"hgvs_p": null,
"transcript": "ENST00000377888.8",
"protein_id": "ENSP00000367120.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": null,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000870.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377888.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HTR4",
"gene_hgnc_id": 5299,
"hgvs_c": "c.353+3976A>T",
"hgvs_p": null,
"transcript": "ENST00000520514.5",
"protein_id": "ENSP00000427913.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": null,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520514.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HTR4",
"gene_hgnc_id": 5299,
"hgvs_c": "c.353+3976A>T",
"hgvs_p": null,
"transcript": "ENST00000521530.6",
"protein_id": "ENSP00000428320.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 387,
"cds_start": null,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521530.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HTR4",
"gene_hgnc_id": 5299,
"hgvs_c": "c.353+3976A>T",
"hgvs_p": null,
"transcript": "ENST00000521735.5",
"protein_id": "ENSP00000430979.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 378,
"cds_start": null,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521735.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HTR4",
"gene_hgnc_id": 5299,
"hgvs_c": "c.353+3976A>T",
"hgvs_p": null,
"transcript": "ENST00000517929.5",
"protein_id": "ENSP00000435904.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517929.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HTR4",
"gene_hgnc_id": 5299,
"hgvs_c": "n.359+3976A>T",
"hgvs_p": null,
"transcript": "ENST00000521124.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000521124.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HTR4",
"gene_hgnc_id": 5299,
"hgvs_c": "n.353+3976A>T",
"hgvs_p": null,
"transcript": "ENST00000522588.5",
"protein_id": "ENSP00000430874.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000522588.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HTR4",
"gene_hgnc_id": 5299,
"hgvs_c": "n.353+3976A>T",
"hgvs_p": null,
"transcript": "ENST00000524063.3",
"protein_id": "ENSP00000430451.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000524063.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HTR4",
"gene_hgnc_id": 5299,
"hgvs_c": "c.353+3976A>T",
"hgvs_p": null,
"transcript": "NM_001040173.2",
"protein_id": "NP_001035263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": null,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040173.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HTR4",
"gene_hgnc_id": 5299,
"hgvs_c": "c.353+3976A>T",
"hgvs_p": null,
"transcript": "ENST00000360693.7",
"protein_id": "ENSP00000353915.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": null,
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"cds_length": 1287,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360693.7"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "HTR4",
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"hgvs_c": "c.353+3976A>T",
"hgvs_p": null,
"transcript": "NM_001286410.1",
"protein_id": "NP_001273339.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286410.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HTR4",
"gene_hgnc_id": 5299,
"hgvs_c": "c.353+3976A>T",
"hgvs_p": null,
"transcript": "ENST00000887163.1",
"protein_id": "ENSP00000557222.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000887163.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HTR4",
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"hgvs_c": "c.353+3976A>T",
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"transcript": "NM_001040169.2",
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"biotype": "protein_coding",
"feature": "NM_001040169.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HTR4",
"gene_hgnc_id": 5299,
"hgvs_c": "c.353+3976A>T",
"hgvs_p": null,
"transcript": "NM_199453.3",
"protein_id": "NP_955525.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199453.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HTR4",
"gene_hgnc_id": 5299,
"hgvs_c": "c.353+3976A>T",
"hgvs_p": null,
"transcript": "NM_001040172.2",
"protein_id": "NP_001035262.2",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040172.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300418",
"gene_hgnc_id": null,
"hgvs_c": "n.402-5426T>A",
"hgvs_p": null,
"transcript": "ENST00000771507.1",
"protein_id": null,
"transcript_support_level": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000771507.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300418",
"gene_hgnc_id": null,
"hgvs_c": "n.402-14883T>A",
"hgvs_p": null,
"transcript": "ENST00000771508.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000771508.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300418",
"gene_hgnc_id": null,
"hgvs_c": "n.401-5426T>A",
"hgvs_p": null,
"transcript": "ENST00000771509.1",
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"feature": "ENST00000771509.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300418",
"gene_hgnc_id": null,
"hgvs_c": "n.360-5393T>A",
"hgvs_p": null,
"transcript": "ENST00000771510.1",
"protein_id": null,
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300418",
"gene_hgnc_id": null,
"hgvs_c": "n.101-5393T>A",
"hgvs_p": null,
"transcript": "ENST00000771511.1",
"protein_id": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000771511.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HTR4",
"gene_hgnc_id": 5299,
"hgvs_c": "n.866+3976A>T",
"hgvs_p": null,
"transcript": "NR_104445.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104445.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC107986462",
"gene_hgnc_id": null,
"hgvs_c": "n.442-5393T>A",
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"biotype": "pseudogene",
"feature": "XR_001742935.2"
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],
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"hom_count_reference_population": 133,
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"gnomad_genomes_af": 0.0336083,
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"gnomad_genomes_ac": 5118,
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"gnomad_genomes_homalt": 133,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.27,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001040173.2",
"gene_symbol": "HTR4",
"hgnc_id": 5299,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.353+3976A>T",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000771507.1",
"gene_symbol": "ENSG00000300418",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.402-5426T>A",
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},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_001742935.2",
"gene_symbol": "LOC107986462",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.442-5393T>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}