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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: 20-46350791-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=46350791&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 46350791,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001281458.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35H1",
"gene_hgnc_id": 17117,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.His313Tyr",
"transcript": "NM_015945.12",
"protein_id": "NP_057029.8",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 365,
"cds_start": 937,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372230.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015945.12"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.His313Tyr",
"transcript": "ENST00000372230.10",
"protein_id": "ENSP00000361304.5",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 365,
"cds_start": 937,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015945.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372230.10"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.His313Tyr",
"transcript": "ENST00000243896.6",
"protein_id": "ENSP00000243896.2",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 365,
"cds_start": 937,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243896.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.His313Tyr",
"transcript": "ENST00000372227.5",
"protein_id": "ENSP00000361301.1",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 365,
"cds_start": 937,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372227.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.His292Tyr",
"transcript": "ENST00000543605.5",
"protein_id": "ENSP00000439974.2",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 344,
"cds_start": 874,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543605.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35H1",
"gene_hgnc_id": 17117,
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.His342Tyr",
"transcript": "NM_001281458.2",
"protein_id": "NP_001268387.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 394,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281458.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.His342Tyr",
"transcript": "ENST00000317734.12",
"protein_id": "ENSP00000318960.9",
"transcript_support_level": 2,
"aa_start": 342,
"aa_end": null,
"aa_length": 394,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317734.12"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.1009C>T",
"hgvs_p": "p.His337Tyr",
"transcript": "ENST00000921071.1",
"protein_id": "ENSP00000591130.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 389,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921071.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.994C>T",
"hgvs_p": "p.His332Tyr",
"transcript": "ENST00000921068.1",
"protein_id": "ENSP00000591127.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 384,
"cds_start": 994,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921068.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.979C>T",
"hgvs_p": "p.His327Tyr",
"transcript": "ENST00000873054.1",
"protein_id": "ENSP00000543113.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 379,
"cds_start": 979,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873054.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.His323Tyr",
"transcript": "ENST00000947091.1",
"protein_id": "ENSP00000617150.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 375,
"cds_start": 967,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947091.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.964C>T",
"hgvs_p": "p.His322Tyr",
"transcript": "ENST00000947090.1",
"protein_id": "ENSP00000617149.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 374,
"cds_start": 964,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947090.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35H1",
"gene_hgnc_id": 17117,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.His313Tyr",
"transcript": "NM_001281460.2",
"protein_id": "NP_001268389.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 365,
"cds_start": 937,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281460.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35H1",
"gene_hgnc_id": 17117,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.His313Tyr",
"transcript": "NM_173179.4",
"protein_id": "NP_775271.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 365,
"cds_start": 937,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173179.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.His313Tyr",
"transcript": "ENST00000873046.1",
"protein_id": "ENSP00000543105.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 365,
"cds_start": 937,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873046.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.His313Tyr",
"transcript": "ENST00000873047.1",
"protein_id": "ENSP00000543106.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 365,
"cds_start": 937,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873047.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.His313Tyr",
"transcript": "ENST00000873050.1",
"protein_id": "ENSP00000543109.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 365,
"cds_start": 937,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873050.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.His313Tyr",
"transcript": "ENST00000873051.1",
"protein_id": "ENSP00000543110.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 365,
"cds_start": 937,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873051.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.His313Tyr",
"transcript": "ENST00000873052.1",
"protein_id": "ENSP00000543111.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 365,
"cds_start": 937,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873052.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.His313Tyr",
"transcript": "ENST00000873056.1",
"protein_id": "ENSP00000543115.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 365,
"cds_start": 937,
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"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873056.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.His313Tyr",
"transcript": "ENST00000873057.1",
"protein_id": "ENSP00000543116.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 365,
"cds_start": 937,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873057.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.His313Tyr",
"transcript": "ENST00000873058.1",
"protein_id": "ENSP00000543117.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 365,
"cds_start": 937,
"cds_end": null,
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"hgvs_p": "p.His313Tyr"
}
],
"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
}