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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: 1-225367900-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225367900&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DNAH14",
"hgnc_id": 2945,
"hgvs_c": "c.12186T>A",
"hgvs_p": "p.Asn4062Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001367479.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1069,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.93,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0296991765499115,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4617,
"aa_ref": "N",
"aa_start": 4062,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14065,
"cdna_start": 12380,
"cds_end": null,
"cds_length": 13854,
"cds_start": 12186,
"consequences": [
"missense_variant"
],
"exon_count": 86,
"exon_rank": 77,
"exon_rank_end": null,
"feature": "NM_001367479.1",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.12186T>A",
"hgvs_p": "p.Asn4062Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000682510.1",
"protein_coding": true,
"protein_id": "NP_001354408.1",
"strand": true,
"transcript": "NM_001367479.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4617,
"aa_ref": "N",
"aa_start": 4062,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14065,
"cdna_start": 12380,
"cds_end": null,
"cds_length": 13854,
"cds_start": 12186,
"consequences": [
"missense_variant"
],
"exon_count": 86,
"exon_rank": 77,
"exon_rank_end": null,
"feature": "ENST00000682510.1",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.12186T>A",
"hgvs_p": "p.Asn4062Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001367479.1",
"protein_coding": true,
"protein_id": "ENSP00000508305.1",
"strand": true,
"transcript": "ENST00000682510.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8488,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000327794.10",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "n.*529+24T>A",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000328980.6",
"strand": true,
"transcript": "ENST00000327794.10",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4515,
"aa_ref": "N",
"aa_start": 3969,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13763,
"cdna_start": 12122,
"cds_end": null,
"cds_length": 13548,
"cds_start": 11907,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 75,
"exon_rank_end": null,
"feature": "ENST00000430092.5",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.11907T>A",
"hgvs_p": "p.Asn3969Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414402.1",
"strand": true,
"transcript": "ENST00000430092.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4515,
"aa_ref": "N",
"aa_start": 3969,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13548,
"cdna_start": 11907,
"cds_end": null,
"cds_length": 13548,
"cds_start": 11907,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 74,
"exon_rank_end": null,
"feature": "ENST00000439375.6",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.11907T>A",
"hgvs_p": "p.Asn3969Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392061.2",
"strand": true,
"transcript": "ENST00000439375.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4616,
"aa_ref": "N",
"aa_start": 4061,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14083,
"cdna_start": 12398,
"cds_end": null,
"cds_length": 13851,
"cds_start": 12183,
"consequences": [
"missense_variant"
],
"exon_count": 86,
"exon_rank": 77,
"exon_rank_end": null,
"feature": "XM_011544058.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.12183T>A",
"hgvs_p": "p.Asn4061Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542360.1",
"strand": true,
"transcript": "XM_011544058.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4601,
"aa_ref": "N",
"aa_start": 4046,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14038,
"cdna_start": 12353,
"cds_end": null,
"cds_length": 13806,
"cds_start": 12138,
"consequences": [
"missense_variant"
],
"exon_count": 86,
"exon_rank": 77,
"exon_rank_end": null,
"feature": "XM_011544059.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.12138T>A",
"hgvs_p": "p.Asn4046Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542361.1",
"strand": true,
"transcript": "XM_011544059.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4592,
"aa_ref": "N",
"aa_start": 4037,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14011,
"cdna_start": 12326,
"cds_end": null,
"cds_length": 13779,
"cds_start": 12111,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 76,
"exon_rank_end": null,
"feature": "XM_017000295.2",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.12111T>A",
"hgvs_p": "p.Asn4037Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855784.1",
"strand": true,
"transcript": "XM_017000295.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4586,
"aa_ref": "N",
"aa_start": 4031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13993,
"cdna_start": 12308,
"cds_end": null,
"cds_length": 13761,
"cds_start": 12093,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 76,
"exon_rank_end": null,
"feature": "XM_006711735.4",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.12093T>A",
"hgvs_p": "p.Asn4031Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711798.1",
"strand": true,
"transcript": "XM_006711735.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4584,
"aa_ref": "N",
"aa_start": 4029,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13987,
"cdna_start": 12302,
"cds_end": null,
"cds_length": 13755,
"cds_start": 12087,
"consequences": [
"missense_variant"
],
"exon_count": 86,
"exon_rank": 77,
"exon_rank_end": null,
"feature": "XM_017000296.2",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.12087T>A",
"hgvs_p": "p.Asn4029Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855785.1",
"strand": true,
"transcript": "XM_017000296.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4582,
"aa_ref": "N",
"aa_start": 4027,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13981,
"cdna_start": 12296,
"cds_end": null,
"cds_length": 13749,
"cds_start": 12081,
"consequences": [
"missense_variant"
],
"exon_count": 86,
"exon_rank": 77,
"exon_rank_end": null,
"feature": "XM_011544061.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.12081T>A",
"hgvs_p": "p.Asn4027Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542363.1",
"strand": true,
"transcript": "XM_011544061.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4578,
"aa_ref": "N",
"aa_start": 4023,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13969,
"cdna_start": 12284,
"cds_end": null,
"cds_length": 13737,
"cds_start": 12069,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 76,
"exon_rank_end": null,
"feature": "XM_017000297.2",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.12069T>A",
"hgvs_p": "p.Asn4023Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855786.1",
"strand": true,
"transcript": "XM_017000297.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4564,
"aa_ref": "N",
"aa_start": 4009,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13927,
"cdna_start": 12242,
"cds_end": null,
"cds_length": 13695,
"cds_start": 12027,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 76,
"exon_rank_end": null,
"feature": "XM_011544063.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.12027T>A",
"hgvs_p": "p.Asn4009Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542365.1",
"strand": true,
"transcript": "XM_011544063.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4561,
"aa_ref": "N",
"aa_start": 4006,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13918,
"cdna_start": 12233,
"cds_end": null,
"cds_length": 13686,
"cds_start": 12018,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 76,
"exon_rank_end": null,
"feature": "XM_011544064.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.12018T>A",
"hgvs_p": "p.Asn4006Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542366.1",
"strand": true,
"transcript": "XM_011544064.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4553,
"aa_ref": "N",
"aa_start": 3998,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13894,
"cdna_start": 12209,
"cds_end": null,
"cds_length": 13662,
"cds_start": 11994,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 76,
"exon_rank_end": null,
"feature": "XM_011544065.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.11994T>A",
"hgvs_p": "p.Asn3998Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542367.1",
"strand": true,
"transcript": "XM_011544065.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4545,
"aa_ref": "N",
"aa_start": 3990,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13870,
"cdna_start": 12185,
"cds_end": null,
"cds_length": 13638,
"cds_start": 11970,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 76,
"exon_rank_end": null,
"feature": "XM_011544066.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.11970T>A",
"hgvs_p": "p.Asn3990Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542368.1",
"strand": true,
"transcript": "XM_011544066.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4504,
"aa_ref": "N",
"aa_start": 4062,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13805,
"cdna_start": 12401,
"cds_end": null,
"cds_length": 13515,
"cds_start": 12186,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 77,
"exon_rank_end": null,
"feature": "XM_047445624.1",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.12186T>A",
"hgvs_p": "p.Asn4062Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301580.1",
"strand": true,
"transcript": "XM_047445624.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4499,
"aa_ref": "N",
"aa_start": 3944,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13732,
"cdna_start": 12047,
"cds_end": null,
"cds_length": 13500,
"cds_start": 11832,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 75,
"exon_rank_end": null,
"feature": "XM_011544069.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.11832T>A",
"hgvs_p": "p.Asn3944Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542371.1",
"strand": true,
"transcript": "XM_011544069.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4491,
"aa_ref": "N",
"aa_start": 3936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13708,
"cdna_start": 12023,
"cds_end": null,
"cds_length": 13476,
"cds_start": 11808,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 75,
"exon_rank_end": null,
"feature": "XM_011544070.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.11808T>A",
"hgvs_p": "p.Asn3936Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542372.1",
"strand": true,
"transcript": "XM_011544070.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4441,
"aa_ref": "N",
"aa_start": 3886,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13558,
"cdna_start": 11873,
"cds_end": null,
"cds_length": 13326,
"cds_start": 11658,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 74,
"exon_rank_end": null,
"feature": "XM_011544071.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.11658T>A",
"hgvs_p": "p.Asn3886Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542373.1",
"strand": true,
"transcript": "XM_011544071.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4178,
"aa_ref": "N",
"aa_start": 3623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12769,
"cdna_start": 11084,
"cds_end": null,
"cds_length": 12537,
"cds_start": 10869,
"consequences": [
"missense_variant"
],
"exon_count": 79,
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