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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: 2-200871442-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200871442&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 200871442,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032472.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Ile",
"transcript": "NM_130906.3",
"protein_id": "NP_570981.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 161,
"cds_start": 439,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392283.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130906.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Ile",
"transcript": "ENST00000392283.9",
"protein_id": "ENSP00000376107.4",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 161,
"cds_start": 439,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_130906.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392283.9"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Ile",
"transcript": "ENST00000286175.12",
"protein_id": "ENSP00000286175.8",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 165,
"cds_start": 451,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286175.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "n.736G>A",
"hgvs_p": null,
"transcript": "ENST00000465823.5",
"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": "pseudogene",
"feature": "ENST00000465823.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Val166Ile",
"transcript": "ENST00000409264.6",
"protein_id": "ENSP00000386893.2",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 180,
"cds_start": 496,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409264.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Ile",
"transcript": "NM_032472.4",
"protein_id": "NP_115861.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 165,
"cds_start": 451,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032472.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Ile",
"transcript": "ENST00000409449.5",
"protein_id": "ENSP00000387012.1",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 165,
"cds_start": 451,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409449.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Ile",
"transcript": "ENST00000899880.1",
"protein_id": "ENSP00000569939.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 165,
"cds_start": 451,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899880.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Ile",
"transcript": "ENST00000899882.1",
"protein_id": "ENSP00000569941.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 165,
"cds_start": 451,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899882.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Ile",
"transcript": "ENST00000899885.1",
"protein_id": "ENSP00000569944.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 165,
"cds_start": 451,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899885.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Ile",
"transcript": "ENST00000917429.1",
"protein_id": "ENSP00000587488.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 165,
"cds_start": 451,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917429.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Ile",
"transcript": "ENST00000917431.1",
"protein_id": "ENSP00000587490.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 165,
"cds_start": 451,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917431.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Ile",
"transcript": "ENST00000917439.1",
"protein_id": "ENSP00000587498.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 165,
"cds_start": 451,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917439.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Ile",
"transcript": "ENST00000917442.1",
"protein_id": "ENSP00000587501.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 165,
"cds_start": 451,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917442.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Ile",
"transcript": "ENST00000952533.1",
"protein_id": "ENSP00000622592.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 165,
"cds_start": 451,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952533.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Ile",
"transcript": "ENST00000952534.1",
"protein_id": "ENSP00000622593.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 165,
"cds_start": 451,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952534.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Ile",
"transcript": "ENST00000899879.1",
"protein_id": "ENSP00000569938.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 161,
"cds_start": 439,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899879.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Ile",
"transcript": "ENST00000899881.1",
"protein_id": "ENSP00000569940.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 161,
"cds_start": 439,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899881.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Ile",
"transcript": "ENST00000899883.1",
"protein_id": "ENSP00000569942.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 161,
"cds_start": 439,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899883.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Ile",
"transcript": "ENST00000899884.1",
"protein_id": "ENSP00000569943.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 161,
"cds_start": 439,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899884.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Ile",
"transcript": "ENST00000899886.1",
"protein_id": "ENSP00000569945.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 161,
"cds_start": 439,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899886.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Ile",
"transcript": "ENST00000899887.1",
"protein_id": "ENSP00000569946.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 161,
"cds_start": 439,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899887.1"
},
{
"aa_ref": "V",
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032472.4",
"gene_symbol": "PPIL3",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}