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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: 19-1271569-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1271569&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CIRBP",
"hgnc_id": 1982,
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Tyr123Cys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_001300829.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 10,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2188,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.4144669771194458,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 297,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3346,
"cdna_start": 453,
"cds_end": null,
"cds_length": 894,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001300829.2",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Tyr123Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000587896.6",
"protein_coding": true,
"protein_id": "NP_001287758.1",
"strand": true,
"transcript": "NM_001300829.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 297,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3346,
"cdna_start": 453,
"cds_end": null,
"cds_length": 894,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000587896.6",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Tyr123Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001300829.2",
"protein_coding": true,
"protein_id": "ENSP00000466025.1",
"strand": true,
"transcript": "ENST00000587896.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 172,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1328,
"cdna_start": 448,
"cds_end": null,
"cds_length": 519,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000320936.9",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Tyr123Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322887.4",
"strand": true,
"transcript": "ENST00000320936.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1507,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000591097.5",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "n.*204A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468229.1",
"strand": true,
"transcript": "ENST00000591097.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1507,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000591097.5",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "n.*204A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468229.1",
"strand": true,
"transcript": "ENST00000591097.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 297,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1092,
"cdna_start": 459,
"cds_end": null,
"cds_length": 894,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000587323.5",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Tyr123Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465077.1",
"strand": true,
"transcript": "ENST00000587323.5",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 297,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1013,
"cdna_start": 453,
"cds_end": null,
"cds_length": 894,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000588230.5",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Tyr123Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465558.1",
"strand": true,
"transcript": "ENST00000588230.5",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 297,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 580,
"cds_end": null,
"cds_length": 894,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000589710.5",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Tyr123Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466897.1",
"strand": true,
"transcript": "ENST00000589710.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 297,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1043,
"cdna_start": 517,
"cds_end": null,
"cds_length": 894,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000628979.2",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Tyr123Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486590.1",
"strand": true,
"transcript": "ENST00000628979.2",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 297,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2724,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 894,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000908652.1",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Tyr123Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578711.1",
"strand": true,
"transcript": "ENST00000908652.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 297,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 411,
"cds_end": null,
"cds_length": 894,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000916895.1",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Tyr123Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586954.1",
"strand": true,
"transcript": "ENST00000916895.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 297,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3644,
"cdna_start": 751,
"cds_end": null,
"cds_length": 894,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000916896.1",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Tyr123Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586955.1",
"strand": true,
"transcript": "ENST00000916896.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 297,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 934,
"cds_end": null,
"cds_length": 894,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000916898.1",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Tyr123Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586957.1",
"strand": true,
"transcript": "ENST00000916898.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 297,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3353,
"cdna_start": 465,
"cds_end": null,
"cds_length": 894,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952606.1",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Tyr123Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622665.1",
"strand": true,
"transcript": "ENST00000952606.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 297,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2302,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 894,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952607.1",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Tyr123Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622666.1",
"strand": true,
"transcript": "ENST00000952607.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 296,
"aa_ref": "Y",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3340,
"cdna_start": 447,
"cds_end": null,
"cds_length": 891,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000908651.1",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.365A>G",
"hgvs_p": "p.Tyr122Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578710.1",
"strand": true,
"transcript": "ENST00000908651.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 296,
"aa_ref": "Y",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3401,
"cdna_start": 511,
"cds_end": null,
"cds_length": 891,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952605.1",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.365A>G",
"hgvs_p": "p.Tyr122Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622664.1",
"strand": true,
"transcript": "ENST00000952605.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 263,
"aa_ref": "Y",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1606,
"cdna_start": 351,
"cds_end": null,
"cds_length": 792,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000413636.6",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Tyr89Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412831.2",
"strand": true,
"transcript": "ENST00000413636.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 263,
"aa_ref": "Y",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3305,
"cdna_start": 412,
"cds_end": null,
"cds_length": 792,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000908650.1",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Tyr89Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578709.1",
"strand": true,
"transcript": "ENST00000908650.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 215,
"aa_ref": "Y",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1462,
"cdna_start": 207,
"cds_end": null,
"cds_length": 648,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000916897.1",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Tyr41Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586956.1",
"strand": true,
"transcript": "ENST00000916897.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 172,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1333,
"cdna_start": 453,
"cds_end": null,
"cds_length": 519,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001280.3",
"gene_hgnc_id": 1982,
"gene_symbol": "CIRBP",
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Tyr123Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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