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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: 1-3844921-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=3844921&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 3844921,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014704.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "NM_014704.4",
"protein_id": "NP_055519.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 925,
"cds_start": 552,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378230.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014704.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000378230.8",
"protein_id": "ENSP00000367476.3",
"transcript_support_level": 5,
"aa_start": 184,
"aa_end": null,
"aa_length": 925,
"cds_start": 552,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014704.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378230.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000494653.5",
"protein_id": "ENSP00000501736.1",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 554,
"cds_start": 552,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494653.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000378223.3",
"protein_id": "ENSP00000367468.3",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 244,
"cds_start": 552,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378223.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000675666.1",
"protein_id": "ENSP00000502548.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 964,
"cds_start": 552,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675666.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.570A>T",
"hgvs_p": "p.Glu190Asp",
"transcript": "ENST00000676052.1",
"protein_id": "ENSP00000502793.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 931,
"cds_start": 570,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676052.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000674558.1",
"protein_id": "ENSP00000501829.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 925,
"cds_start": 552,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674558.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000674623.1",
"protein_id": "ENSP00000501733.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 925,
"cds_start": 552,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674623.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000894371.1",
"protein_id": "ENSP00000564430.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 925,
"cds_start": 552,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894371.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000894372.1",
"protein_id": "ENSP00000564431.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 925,
"cds_start": 552,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894372.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000923947.1",
"protein_id": "ENSP00000594006.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 925,
"cds_start": 552,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923947.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.378A>T",
"hgvs_p": "p.Glu126Asp",
"transcript": "ENST00000923946.1",
"protein_id": "ENSP00000594005.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 923,
"cds_start": 378,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923946.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000428079.6",
"protein_id": "ENSP00000394989.2",
"transcript_support_level": 5,
"aa_start": 184,
"aa_end": null,
"aa_length": 893,
"cds_start": 552,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428079.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.378A>T",
"hgvs_p": "p.Glu126Asp",
"transcript": "ENST00000674544.1",
"protein_id": "ENSP00000502641.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 867,
"cds_start": 378,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674544.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000675375.1",
"protein_id": "ENSP00000502180.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 867,
"cds_start": 552,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675375.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000894373.1",
"protein_id": "ENSP00000564432.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 867,
"cds_start": 552,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894373.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000461667.2",
"protein_id": "ENSP00000463605.2",
"transcript_support_level": 5,
"aa_start": 184,
"aa_end": null,
"aa_length": 866,
"cds_start": 552,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461667.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000675677.1",
"protein_id": "ENSP00000501944.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 859,
"cds_start": 552,
"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": "ENST00000675677.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000923945.1",
"protein_id": "ENSP00000594004.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 859,
"cds_start": 552,
"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": "ENST00000923945.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000955290.1",
"protein_id": "ENSP00000625349.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 856,
"cds_start": 552,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955290.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.552A>T",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000955291.1",
"protein_id": "ENSP00000625350.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 790,
"cds_start": 552,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955291.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.678A>T",
"hgvs_p": "p.Glu226Asp",
"transcript": "XM_024451101.2",
"protein_id": "XP_024306869.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 967,
"cds_start": 678,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451101.2"
},
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Joubert syndrome 25|not provided|CEP104-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
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}
],
"message": null
}