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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: 10-75022078-GGAGGAGGAGGAC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=75022078&ref=GGAGGAGGAGGAC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 75022078,
"ref": "GGAGGAGGAGGAC",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000287239.10",
"consequences": [
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3231_3242delCGAGGAGGAGGA",
"hgvs_p": "p.Asp1077_Glu1080del",
"transcript": "NM_012330.4",
"protein_id": "NP_036462.2",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3231,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 3745,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "ENST00000287239.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3231_3242delCGAGGAGGAGGA",
"hgvs_p": "p.Asp1077_Glu1080del",
"transcript": "ENST00000287239.10",
"protein_id": "ENSP00000287239.4",
"transcript_support_level": 1,
"aa_start": 1077,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3231,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 3745,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "NM_012330.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2682_2693delCGAGGAGGAGGA",
"hgvs_p": "p.Asp894_Glu897del",
"transcript": "ENST00000372711.2",
"protein_id": "ENSP00000361796.1",
"transcript_support_level": 1,
"aa_start": 894,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2682,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 3067,
"cdna_end": null,
"cdna_length": 7297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3231_3242delCGAGGAGGAGGA",
"hgvs_p": "p.Asp1077_Glu1080del",
"transcript": "NM_001370136.1",
"protein_id": "NP_001357065.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3231,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 3755,
"cdna_end": null,
"cdna_length": 8324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3231_3242delCGAGGAGGAGGA",
"hgvs_p": "p.Asp1077_Glu1080del",
"transcript": "NM_001370137.1",
"protein_id": "NP_001357066.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3231,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 3776,
"cdna_end": null,
"cdna_length": 8345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3231_3242delCGAGGAGGAGGA",
"hgvs_p": "p.Asp1077_Glu1080del",
"transcript": "ENST00000648725.1",
"protein_id": "ENSP00000497841.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3231,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 3980,
"cdna_end": null,
"cdna_length": 8209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3231_3242delCGAGGAGGAGGA",
"hgvs_p": "p.Asp1077_Glu1080del",
"transcript": "ENST00000649463.1",
"protein_id": "ENSP00000497166.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3231,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 3742,
"cdna_end": null,
"cdna_length": 7908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2682_2693delCGAGGAGGAGGA",
"hgvs_p": "p.Asp894_Glu897del",
"transcript": "NM_001256468.2",
"protein_id": "NP_001243397.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2682,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 3196,
"cdna_end": null,
"cdna_length": 7765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2682_2693delCGAGGAGGAGGA",
"hgvs_p": "p.Asp894_Glu897del",
"transcript": "NM_001370138.1",
"protein_id": "NP_001357067.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2682,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 3206,
"cdna_end": null,
"cdna_length": 7775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2682_2693delCGAGGAGGAGGA",
"hgvs_p": "p.Asp894_Glu897del",
"transcript": "ENST00000372724.6",
"protein_id": "ENSP00000361809.2",
"transcript_support_level": 5,
"aa_start": 894,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2682,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 3347,
"cdna_end": null,
"cdna_length": 7571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2355_2366delCGAGGAGGAGGA",
"hgvs_p": "p.Asp785_Glu788del",
"transcript": "NM_001256469.2",
"protein_id": "NP_001243398.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2355,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 2869,
"cdna_end": null,
"cdna_length": 7438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2355_2366delCGAGGAGGAGGA",
"hgvs_p": "p.Asp785_Glu788del",
"transcript": "NM_001370139.1",
"protein_id": "NP_001357068.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2355,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 2816,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2355_2366delCGAGGAGGAGGA",
"hgvs_p": "p.Asp785_Glu788del",
"transcript": "NM_001370140.1",
"protein_id": "NP_001357069.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2355,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 2879,
"cdna_end": null,
"cdna_length": 7448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2355_2366delCGAGGAGGAGGA",
"hgvs_p": "p.Asp785_Glu788del",
"transcript": "NM_001370141.1",
"protein_id": "NP_001357070.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2355,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 2809,
"cdna_end": null,
"cdna_length": 7378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2355_2366delCGAGGAGGAGGA",
"hgvs_p": "p.Asp785_Glu788del",
"transcript": "NM_001370142.1",
"protein_id": "NP_001357071.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2355,
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"cdna_start": 2799,
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"cdna_length": 7368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2355_2366delCGAGGAGGAGGA",
"hgvs_p": "p.Asp785_Glu788del",
"transcript": "ENST00000372714.6",
"protein_id": "ENSP00000361799.1",
"transcript_support_level": 5,
"aa_start": 785,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2355,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 2837,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2355_2366delCGAGGAGGAGGA",
"hgvs_p": "p.Asp785_Glu788del",
"transcript": "ENST00000372725.6",
"protein_id": "ENSP00000361810.1",
"transcript_support_level": 5,
"aa_start": 785,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2355,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 2789,
"cdna_end": null,
"cdna_length": 7027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2355_2366delCGAGGAGGAGGA",
"hgvs_p": "p.Asp785_Glu788del",
"transcript": "ENST00000648892.1",
"protein_id": "ENSP00000497048.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2355,
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"cdna_start": 3056,
"cdna_end": null,
"cdna_length": 7625,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2355_2366delCGAGGAGGAGGA",
"hgvs_p": "p.Asp785_Glu788del",
"transcript": "ENST00000649006.1",
"protein_id": "ENSP00000498139.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2355,
"cds_end": null,
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"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 6847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2193_2204delCGAGGAGGAGGA",
"hgvs_p": "p.Asp731_Glu734del",
"transcript": "NM_001370132.1",
"protein_id": "NP_001357061.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1727,
"cds_start": 2193,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 2707,
"cdna_end": null,
"cdna_length": 7276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2166_2177delCGAGGAGGAGGA",
"hgvs_p": "p.Asp722_Glu725del",
"transcript": "NM_001370143.1",
"protein_id": "NP_001357072.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1718,
"cds_start": 2166,
"cds_end": null,
"cds_length": 5157,
"cdna_start": 2620,
"cdna_end": null,
"cdna_length": 7189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:4",
"phenotype_combined": "not specified|Genitopatellar syndrome;Blepharophimosis - intellectual disability syndrome, SBBYS type|not provided|Genitopatellar syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}