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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: 3-53817890-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53817890&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 53817890,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018397.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "NM_018397.5",
"protein_id": "NP_060867.2",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315251.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018397.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000315251.11",
"protein_id": "ENSP00000319851.5",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018397.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315251.11"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Ala559Thr",
"transcript": "ENST00000875879.1",
"protein_id": "ENSP00000545938.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 595,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875879.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Ala559Thr",
"transcript": "ENST00000875888.1",
"protein_id": "ENSP00000545947.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 595,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875888.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Ala559Thr",
"transcript": "ENST00000875889.1",
"protein_id": "ENSP00000545948.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 595,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875889.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Ala559Thr",
"transcript": "ENST00000875892.1",
"protein_id": "ENSP00000545951.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 595,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875892.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Ala559Thr",
"transcript": "ENST00000959581.1",
"protein_id": "ENSP00000629640.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 595,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959581.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000875878.1",
"protein_id": "ENSP00000545937.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875878.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000875881.1",
"protein_id": "ENSP00000545940.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875881.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000875882.1",
"protein_id": "ENSP00000545941.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875882.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000875883.1",
"protein_id": "ENSP00000545942.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875883.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000875885.1",
"protein_id": "ENSP00000545944.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875885.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000875886.1",
"protein_id": "ENSP00000545945.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875886.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000875887.1",
"protein_id": "ENSP00000545946.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875887.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000875890.1",
"protein_id": "ENSP00000545949.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875890.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000875891.1",
"protein_id": "ENSP00000545950.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875891.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000875893.1",
"protein_id": "ENSP00000545952.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875893.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000875895.1",
"protein_id": "ENSP00000545954.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875895.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000911851.1",
"protein_id": "ENSP00000581910.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911851.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000959583.1",
"protein_id": "ENSP00000629642.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959583.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000959584.1",
"protein_id": "ENSP00000629643.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959584.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHDH",
"gene_hgnc_id": 24288,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000959585.1",
"protein_id": "ENSP00000629644.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 594,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_classification": "Uncertain_significance",
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{
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"criteria": [
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"verdict": "Uncertain_significance",
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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
}