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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: 1-225374683-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225374683&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 225374683,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001367479.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": 77,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12319-5C>T",
"hgvs_p": null,
"transcript": "NM_001367479.1",
"protein_id": "NP_001354408.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4617,
"cds_start": null,
"cds_end": null,
"cds_length": 13854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682510.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367479.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": 77,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12319-5C>T",
"hgvs_p": null,
"transcript": "ENST00000682510.1",
"protein_id": "ENSP00000508305.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4617,
"cds_start": null,
"cds_end": null,
"cds_length": 13854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001367479.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682510.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "n.*530-5C>T",
"hgvs_p": null,
"transcript": "ENST00000327794.10",
"protein_id": "ENSP00000328980.6",
"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": "ENST00000327794.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": 75,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12040-5C>T",
"hgvs_p": null,
"transcript": "ENST00000430092.5",
"protein_id": "ENSP00000414402.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 4515,
"cds_start": null,
"cds_end": null,
"cds_length": 13548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430092.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": 74,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12040-5C>T",
"hgvs_p": null,
"transcript": "ENST00000439375.6",
"protein_id": "ENSP00000392061.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 4515,
"cds_start": null,
"cds_end": null,
"cds_length": 13548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439375.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": 53,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.9206-2573C>T",
"hgvs_p": null,
"transcript": "ENST00000445597.6",
"protein_id": "ENSP00000409472.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3507,
"cds_start": null,
"cds_end": null,
"cds_length": 10524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445597.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": 77,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12316-5C>T",
"hgvs_p": null,
"transcript": "XM_011544058.3",
"protein_id": "XP_011542360.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4616,
"cds_start": null,
"cds_end": null,
"cds_length": 13851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544058.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": 77,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12271-5C>T",
"hgvs_p": null,
"transcript": "XM_011544059.3",
"protein_id": "XP_011542361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4601,
"cds_start": null,
"cds_end": null,
"cds_length": 13806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544059.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": 76,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12244-5C>T",
"hgvs_p": null,
"transcript": "XM_017000295.2",
"protein_id": "XP_016855784.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4592,
"cds_start": null,
"cds_end": null,
"cds_length": 13779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000295.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": 76,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12226-5C>T",
"hgvs_p": null,
"transcript": "XM_006711735.4",
"protein_id": "XP_006711798.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4586,
"cds_start": null,
"cds_end": null,
"cds_length": 13761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711735.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": 77,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12220-5C>T",
"hgvs_p": null,
"transcript": "XM_017000296.2",
"protein_id": "XP_016855785.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4584,
"cds_start": null,
"cds_end": null,
"cds_length": 13755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000296.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": 77,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12214-5C>T",
"hgvs_p": null,
"transcript": "XM_011544061.3",
"protein_id": "XP_011542363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4582,
"cds_start": null,
"cds_end": null,
"cds_length": 13749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544061.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": 76,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12202-5C>T",
"hgvs_p": null,
"transcript": "XM_017000297.2",
"protein_id": "XP_016855786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4578,
"cds_start": null,
"cds_end": null,
"cds_length": 13737,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000297.2"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": 77,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12163-5C>T",
"hgvs_p": null,
"transcript": "XM_011544062.3",
"protein_id": "XP_011542364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4565,
"cds_start": null,
"cds_end": null,
"cds_length": 13698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544062.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": 76,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12160-5C>T",
"hgvs_p": null,
"transcript": "XM_011544063.3",
"protein_id": "XP_011542365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4564,
"cds_start": null,
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"cds_length": 13695,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544063.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": 76,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12151-5C>T",
"hgvs_p": null,
"transcript": "XM_011544064.3",
"protein_id": "XP_011542366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4561,
"cds_start": null,
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"cds_length": 13686,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544064.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": 76,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12127-5C>T",
"hgvs_p": null,
"transcript": "XM_011544065.3",
"protein_id": "XP_011542367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4553,
"cds_start": null,
"cds_end": null,
"cds_length": 13662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544065.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": 76,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12103-5C>T",
"hgvs_p": null,
"transcript": "XM_011544066.3",
"protein_id": "XP_011542368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_011544066.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": 76,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12091-5C>T",
"hgvs_p": null,
"transcript": "XM_011544067.3",
"protein_id": "XP_011542369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544067.3"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": 77,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12319-5C>T",
"hgvs_p": null,
"transcript": "XM_047445624.1",
"protein_id": "XP_047301580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4504,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445624.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": 75,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11965-5C>T",
"hgvs_p": null,
"transcript": "XM_011544069.3",
"protein_id": "XP_011542371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4499,
"cds_start": null,
"cds_end": null,
"cds_length": 13500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544069.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": 75,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11941-5C>T",
"hgvs_p": null,
"transcript": "XM_011544070.3",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"effects": [
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}