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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: 6-69697573-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=69697573&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 69697573,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018368.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1407T>A",
"hgvs_p": "p.Asp469Glu",
"transcript": "NM_018368.4",
"protein_id": "NP_060838.3",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 540,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000649934.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018368.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1407T>A",
"hgvs_p": "p.Asp469Glu",
"transcript": "ENST00000649934.3",
"protein_id": "ENSP00000497690.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 540,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018368.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649934.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>A",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000370570.6",
"protein_id": "ENSP00000359602.1",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370570.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1527T>A",
"hgvs_p": "p.Asp509Glu",
"transcript": "ENST00000875440.1",
"protein_id": "ENSP00000545499.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 580,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875440.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1482T>A",
"hgvs_p": "p.Asp494Glu",
"transcript": "ENST00000875437.1",
"protein_id": "ENSP00000545496.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 565,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875437.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1473T>A",
"hgvs_p": "p.Asp491Glu",
"transcript": "ENST00000649011.1",
"protein_id": "ENSP00000497575.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 562,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649011.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1341T>A",
"hgvs_p": "p.Asp447Glu",
"transcript": "ENST00000875439.1",
"protein_id": "ENSP00000545498.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 518,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875439.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1293T>A",
"hgvs_p": "p.Asp431Glu",
"transcript": "ENST00000875441.1",
"protein_id": "ENSP00000545500.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 502,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875441.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1257T>A",
"hgvs_p": "p.Asp419Glu",
"transcript": "ENST00000875438.1",
"protein_id": "ENSP00000545497.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 490,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875438.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1230T>A",
"hgvs_p": "p.Asp410Glu",
"transcript": "ENST00000934477.1",
"protein_id": "ENSP00000604536.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 481,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934477.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>A",
"hgvs_p": "p.Asp396Glu",
"transcript": "NM_001363722.2",
"protein_id": "NP_001350651.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363722.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>A",
"hgvs_p": "p.Asp396Glu",
"transcript": "NM_001367271.1",
"protein_id": "NP_001354200.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367271.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>A",
"hgvs_p": "p.Asp396Glu",
"transcript": "NM_001367272.1",
"protein_id": "NP_001354201.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367272.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>A",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000647964.1",
"protein_id": "ENSP00000496784.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647964.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>A",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000648168.1",
"protein_id": "ENSP00000498178.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648168.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>A",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000648394.1",
"protein_id": "ENSP00000497302.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648394.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>A",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000648743.1",
"protein_id": "ENSP00000497135.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648743.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>A",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000649028.1",
"protein_id": "ENSP00000498034.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649028.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>A",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000649679.1",
"protein_id": "ENSP00000497387.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649679.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>A",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000649918.1",
"protein_id": "ENSP00000497487.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649918.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>A",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000650035.1",
"protein_id": "ENSP00000497703.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650035.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>A",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000650107.1",
"protein_id": "ENSP00000497124.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
"gene_symbol": "LMBRD1",
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"dbsnp": "rs12648",
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"hom_count_reference_population": 125478,
"allele_count_reference_population": 622785,
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"computational_score_selected": 0.00024306774139404297,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.435,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_018368.4",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "Methylmalonic aciduria and homocystinuria type cblF,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Methylmalonic aciduria and homocystinuria type cblF",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}