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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: 1-33332385-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=33332385&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 33332385,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001385112.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.1781T>G",
"hgvs_p": "p.Leu594Arg",
"transcript": "NM_001385109.1",
"protein_id": "NP_001372038.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 859,
"cds_start": 1781,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683057.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385109.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.1781T>G",
"hgvs_p": "p.Leu594Arg",
"transcript": "ENST00000683057.1",
"protein_id": "ENSP00000507877.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 859,
"cds_start": 1781,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385109.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683057.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.1778T>G",
"hgvs_p": "p.Leu593Arg",
"transcript": "ENST00000257118.5",
"protein_id": "ENSP00000257118.5",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 858,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257118.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.1694T>G",
"hgvs_p": "p.Leu565Arg",
"transcript": "ENST00000431992.6",
"protein_id": "ENSP00000389436.2",
"transcript_support_level": 1,
"aa_start": 565,
"aa_end": null,
"aa_length": 830,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431992.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.173T>G",
"hgvs_p": "p.Leu58Arg",
"transcript": "ENST00000373418.7",
"protein_id": "ENSP00000362517.3",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 323,
"cds_start": 173,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373418.7"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.1847T>G",
"hgvs_p": "p.Leu616Arg",
"transcript": "NM_001385112.1",
"protein_id": "NP_001372041.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 881,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385112.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.1847T>G",
"hgvs_p": "p.Leu616Arg",
"transcript": "ENST00000706360.1",
"protein_id": "ENSP00000516348.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 881,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706360.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.1781T>G",
"hgvs_p": "p.Leu594Arg",
"transcript": "NM_001385119.1",
"protein_id": "NP_001372048.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 859,
"cds_start": 1781,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385119.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.1781T>G",
"hgvs_p": "p.Leu594Arg",
"transcript": "NM_001385120.1",
"protein_id": "NP_001372049.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 859,
"cds_start": 1781,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385120.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.1781T>G",
"hgvs_p": "p.Leu594Arg",
"transcript": "ENST00000881545.1",
"protein_id": "ENSP00000551604.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 859,
"cds_start": 1781,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881545.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.1778T>G",
"hgvs_p": "p.Leu593Arg",
"transcript": "NM_198040.3",
"protein_id": "NP_932157.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 858,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198040.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.1775T>G",
"hgvs_p": "p.Leu592Arg",
"transcript": "NM_001385121.1",
"protein_id": "NP_001372050.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 857,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385121.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.1694T>G",
"hgvs_p": "p.Leu565Arg",
"transcript": "NM_001330488.2",
"protein_id": "NP_001317417.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 830,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330488.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.1694T>G",
"hgvs_p": "p.Leu565Arg",
"transcript": "NM_001385122.1",
"protein_id": "NP_001372051.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 830,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385122.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.1694T>G",
"hgvs_p": "p.Leu565Arg",
"transcript": "ENST00000373422.8",
"protein_id": "ENSP00000362521.4",
"transcript_support_level": 2,
"aa_start": 565,
"aa_end": null,
"aa_length": 830,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373422.8"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.1055T>G",
"hgvs_p": "p.Leu352Arg",
"transcript": "NM_001385123.1",
"protein_id": "NP_001372052.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 617,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385123.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.173T>G",
"hgvs_p": "p.Leu58Arg",
"transcript": "NM_004427.4",
"protein_id": "NP_004418.2",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 323,
"cds_start": 173,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004427.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.-89T>G",
"hgvs_p": null,
"transcript": "ENST00000493483.5",
"protein_id": "ENSP00000509437.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": null,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493483.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "n.78T>G",
"hgvs_p": null,
"transcript": "ENST00000467894.5",
"protein_id": "ENSP00000510267.1",
"transcript_support_level": 5,
"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": "ENST00000467894.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "n.314T>G",
"hgvs_p": null,
"transcript": "ENST00000473158.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000473158.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "n.78T>G",
"hgvs_p": null,
"transcript": "ENST00000485928.5",
"protein_id": "ENSP00000510096.1",
"transcript_support_level": 2,
"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": "ENST00000485928.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "n.78T>G",
"hgvs_p": null,
"transcript": "ENST00000486897.5",
"protein_id": "ENSP00000508722.1",
"transcript_support_level": 5,
"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",
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{
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"PP3"
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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{
"score": 3,
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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
}