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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: 1-155321986-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155321986&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155321986,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001105203.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Cys71Cys",
"transcript": "NM_001105203.2",
"protein_id": "NP_001098673.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 902,
"cds_start": 213,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368352.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105203.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Cys71Cys",
"transcript": "ENST00000368352.10",
"protein_id": "ENSP00000357336.5",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 902,
"cds_start": 213,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001105203.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368352.10"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RUSC1-AS1",
"gene_hgnc_id": 26680,
"hgvs_c": "n.264-291G>A",
"hgvs_p": null,
"transcript": "ENST00000450199.2",
"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": "ENST00000450199.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Cys71Cys",
"transcript": "ENST00000696599.1",
"protein_id": "ENSP00000512744.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 1039,
"cds_start": 213,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696599.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Cys71Cys",
"transcript": "ENST00000878375.1",
"protein_id": "ENSP00000548434.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 997,
"cds_start": 213,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878375.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Cys71Cys",
"transcript": "ENST00000878373.1",
"protein_id": "ENSP00000548432.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 902,
"cds_start": 213,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878373.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Cys71Cys",
"transcript": "ENST00000878374.1",
"protein_id": "ENSP00000548433.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 902,
"cds_start": 213,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878374.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Cys71Cys",
"transcript": "ENST00000925571.1",
"protein_id": "ENSP00000595630.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 902,
"cds_start": 213,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925571.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Cys71Cys",
"transcript": "ENST00000955292.1",
"protein_id": "ENSP00000625351.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 902,
"cds_start": 213,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955292.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Cys71Cys",
"transcript": "ENST00000878376.1",
"protein_id": "ENSP00000548435.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 860,
"cds_start": 213,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878376.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Cys71Cys",
"transcript": "ENST00000878377.1",
"protein_id": "ENSP00000548436.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 860,
"cds_start": 213,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878377.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Cys71Cys",
"transcript": "NM_001105204.2",
"protein_id": "NP_001098674.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 796,
"cds_start": 213,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105204.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Cys71Cys",
"transcript": "ENST00000368354.7",
"protein_id": "ENSP00000357338.3",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 796,
"cds_start": 213,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368354.7"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Cys71Cys",
"transcript": "XM_006711254.3",
"protein_id": "XP_006711317.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 1039,
"cds_start": 213,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711254.3"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Cys71Cys",
"transcript": "XM_017000891.2",
"protein_id": "XP_016856380.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 1039,
"cds_start": 213,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000891.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Cys71Cys",
"transcript": "XM_006711256.3",
"protein_id": "XP_006711319.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 933,
"cds_start": 213,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711256.3"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Cys71Cys",
"transcript": "XM_047416644.1",
"protein_id": "XP_047272600.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 902,
"cds_start": 213,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416644.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "n.213C>T",
"hgvs_p": null,
"transcript": "ENST00000497930.6",
"protein_id": "ENSP00000479858.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000497930.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "n.397C>T",
"hgvs_p": null,
"transcript": "XR_007058572.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007058572.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RUSC1-AS1",
"gene_hgnc_id": 26680,
"hgvs_c": "n.497+257G>A",
"hgvs_p": null,
"transcript": "ENST00000443642.2",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000443642.2"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RUSC1-AS1",
"gene_hgnc_id": 26680,
"hgvs_c": "n.266+257G>A",
"hgvs_p": null,
"transcript": "ENST00000746586.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000746586.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RUSC1-AS1",
"gene_hgnc_id": 26680,
"hgvs_c": "n.358+257G>A",
"hgvs_p": null,
"transcript": "ENST00000746587.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000746587.1"
},
{
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"phylop100way_prediction": "Benign",
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{
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"BP7"
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"verdict": "Benign",
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"effects": [
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"inheritance_mode": "",
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"hgvs_p": "p.Cys71Cys"
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{
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"BP6_Moderate"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}