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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: 19-1272009-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1272009&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1272009,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001300829.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "NM_001300829.2",
"protein_id": "NP_001287758.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 297,
"cds_start": 460,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000587896.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300829.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000587896.6",
"protein_id": "ENSP00000466025.1",
"transcript_support_level": 2,
"aa_start": 154,
"aa_end": null,
"aa_length": 297,
"cds_start": 460,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001300829.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587896.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000320936.9",
"protein_id": "ENSP00000322887.4",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 172,
"cds_start": 460,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320936.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "n.*644C>T",
"hgvs_p": null,
"transcript": "ENST00000591097.5",
"protein_id": "ENSP00000468229.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000591097.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "n.*644C>T",
"hgvs_p": null,
"transcript": "ENST00000591097.5",
"protein_id": "ENSP00000468229.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000591097.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000587323.5",
"protein_id": "ENSP00000465077.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 297,
"cds_start": 460,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587323.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000588230.5",
"protein_id": "ENSP00000465558.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 297,
"cds_start": 460,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588230.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000589710.5",
"protein_id": "ENSP00000466897.1",
"transcript_support_level": 2,
"aa_start": 154,
"aa_end": null,
"aa_length": 297,
"cds_start": 460,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589710.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000628979.2",
"protein_id": "ENSP00000486590.1",
"transcript_support_level": 2,
"aa_start": 154,
"aa_end": null,
"aa_length": 297,
"cds_start": 460,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628979.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000908652.1",
"protein_id": "ENSP00000578711.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 297,
"cds_start": 460,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908652.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000916895.1",
"protein_id": "ENSP00000586954.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 297,
"cds_start": 460,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916895.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000916896.1",
"protein_id": "ENSP00000586955.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 297,
"cds_start": 460,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916896.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000916898.1",
"protein_id": "ENSP00000586957.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 297,
"cds_start": 460,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916898.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000952606.1",
"protein_id": "ENSP00000622665.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 297,
"cds_start": 460,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952606.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000952607.1",
"protein_id": "ENSP00000622666.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 297,
"cds_start": 460,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952607.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Arg153Trp",
"transcript": "ENST00000908651.1",
"protein_id": "ENSP00000578710.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 296,
"cds_start": 457,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908651.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Arg153Trp",
"transcript": "ENST00000952605.1",
"protein_id": "ENSP00000622664.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 296,
"cds_start": 457,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952605.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.358C>T",
"hgvs_p": "p.Arg120Trp",
"transcript": "ENST00000413636.6",
"protein_id": "ENSP00000412831.2",
"transcript_support_level": 2,
"aa_start": 120,
"aa_end": null,
"aa_length": 263,
"cds_start": 358,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413636.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.358C>T",
"hgvs_p": "p.Arg120Trp",
"transcript": "ENST00000908650.1",
"protein_id": "ENSP00000578709.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 263,
"cds_start": 358,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908650.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000916897.1",
"protein_id": "ENSP00000586956.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 215,
"cds_start": 214,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916897.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "NM_001280.3",
"protein_id": "NP_001271.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 172,
"cds_start": 460,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIRBP",
"gene_hgnc_id": 1982,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "NM_001437523.1",
"protein_id": "NP_001424452.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 172,
"cds_start": 460,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437523.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
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{
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],
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"dbsnp": "rs772302756",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46811559796333313,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.4578,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.614,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001300829.2",
"gene_symbol": "CIRBP",
"hgnc_id": 1982,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp"
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],
"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
}