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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: 7-44241751-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44241751&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44241751,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000395749.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "NM_001220.5",
"protein_id": "NP_001211.3",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 666,
"cds_start": 852,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4545,
"mane_select": "ENST00000395749.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "ENST00000395749.7",
"protein_id": "ENSP00000379098.2",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 666,
"cds_start": 852,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4545,
"mane_select": "NM_001220.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "ENST00000440254.6",
"protein_id": "ENSP00000397937.2",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 542,
"cds_start": 852,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "ENST00000395747.6",
"protein_id": "ENSP00000379096.2",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 518,
"cds_start": 852,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "ENST00000258682.10",
"protein_id": "ENSP00000258682.6",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 517,
"cds_start": 852,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "ENST00000358707.7",
"protein_id": "ENSP00000351542.3",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 503,
"cds_start": 852,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 1895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "ENST00000347193.8",
"protein_id": "ENSP00000326544.6",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 492,
"cds_start": 852,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "ENST00000353625.8",
"protein_id": "ENSP00000326427.5",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 479,
"cds_start": 852,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "ENST00000346990.8",
"protein_id": "ENSP00000326518.5",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 449,
"cds_start": 852,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "ENST00000700235.1",
"protein_id": "ENSP00000514874.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 561,
"cds_start": 852,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.750A>T",
"hgvs_p": "p.Arg250Ser",
"transcript": "ENST00000700287.1",
"protein_id": "ENSP00000514919.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 546,
"cds_start": 750,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 1749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "NM_001293170.2",
"protein_id": "NP_001280099.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 542,
"cds_start": 852,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 2386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "NM_172078.3",
"protein_id": "NP_742075.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 542,
"cds_start": 852,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "ENST00000350811.7",
"protein_id": "ENSP00000326375.5",
"transcript_support_level": 2,
"aa_start": 284,
"aa_end": null,
"aa_length": 542,
"cds_start": 852,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "ENST00000700285.1",
"protein_id": "ENSP00000514918.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 542,
"cds_start": 852,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "NM_172079.3",
"protein_id": "NP_742076.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 518,
"cds_start": 852,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "NM_172080.3",
"protein_id": "NP_742077.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 517,
"cds_start": 852,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "ENST00000700233.1",
"protein_id": "ENSP00000514871.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 516,
"cds_start": 852,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "NM_172081.3",
"protein_id": "NP_742078.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 503,
"cds_start": 852,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "NM_172082.3",
"protein_id": "NP_742079.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 492,
"cds_start": 852,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "NM_172083.3",
"protein_id": "NP_742080.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 479,
"cds_start": 852,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Arg284Ser",
"transcript": "NM_172084.3",
"protein_id": "NP_742081.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 449,
"cds_start": 852,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 3894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.465A>T",
"hgvs_p": "p.Arg155Ser",
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}
],
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"computational_prediction_selected": "Uncertain_significance",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": " autosomal dominant 54,Intellectual disability",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability, autosomal dominant 54",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}