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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: 3-41234286-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=41234286&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 41234286,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001904.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "NM_001904.4",
"protein_id": "NP_001895.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349496.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001904.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000349496.11",
"protein_id": "ENSP00000344456.5",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001904.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349496.11"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000396183.7",
"protein_id": "ENSP00000379486.3",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396183.7"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000396185.8",
"protein_id": "ENSP00000379488.3",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396185.8"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000645982.1",
"protein_id": "ENSP00000494845.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645982.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "n.1672C>T",
"hgvs_p": null,
"transcript": "ENST00000715152.1",
"protein_id": "ENSP00000520353.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000715152.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000645927.2",
"protein_id": "ENSP00000495287.2",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 789,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645927.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Gln560*",
"transcript": "ENST00000645276.1",
"protein_id": "ENSP00000494654.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 783,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645276.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "NM_001098209.2",
"protein_id": "NP_001091679.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098209.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "NM_001098210.2",
"protein_id": "NP_001091680.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098210.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "NM_001438871.1",
"protein_id": "NP_001425800.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438871.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "NM_001438872.1",
"protein_id": "NP_001425801.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438872.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "NM_001438873.1",
"protein_id": "NP_001425802.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438873.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000405570.6",
"protein_id": "ENSP00000385604.1",
"transcript_support_level": 2,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405570.6"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000431914.6",
"protein_id": "ENSP00000412219.2",
"transcript_support_level": 4,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431914.6"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000433400.6",
"protein_id": "ENSP00000387455.2",
"transcript_support_level": 4,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433400.6"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000441708.2",
"protein_id": "ENSP00000401599.2",
"transcript_support_level": 4,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441708.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000450969.6",
"protein_id": "ENSP00000409302.2",
"transcript_support_level": 4,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450969.6"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000642248.1",
"protein_id": "ENSP00000495244.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642248.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000642315.1",
"protein_id": "ENSP00000495076.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642315.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000642426.1",
"protein_id": "ENSP00000495719.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642426.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000642992.1",
"protein_id": "ENSP00000496385.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 781,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2346,
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{
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"verdict": "Pathogenic",
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Severe intellectual disability-progressive spastic diplegia syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}