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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: 1-225082707-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225082707&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DNAH14",
"hgnc_id": 2945,
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001367479.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0878,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08826065063476562,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 4617,
"aa_ref": "N",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14065,
"cdna_start": 3489,
"cds_end": null,
"cds_length": 13854,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 86,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001367479.1",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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": "D",
"aa_end": null,
"aa_length": 4617,
"aa_ref": "N",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14065,
"cdna_start": 3489,
"cds_end": null,
"cds_length": 13854,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 86,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000682510.1",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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": "D",
"aa_end": null,
"aa_length": 4515,
"aa_ref": "N",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13763,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 13548,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000430092.5",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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": "D",
"aa_end": null,
"aa_length": 4515,
"aa_ref": "N",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13548,
"cdna_start": 3295,
"cds_end": null,
"cds_length": 13548,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000439375.6",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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": "D",
"aa_end": null,
"aa_length": 4616,
"aa_ref": "N",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14083,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 13851,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 86,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011544058.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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": "D",
"aa_end": null,
"aa_length": 4601,
"aa_ref": "N",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14038,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 13806,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 86,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011544059.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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": "D",
"aa_end": null,
"aa_length": 4592,
"aa_ref": "N",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14011,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 13779,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017000295.2",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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": "D",
"aa_end": null,
"aa_length": 4586,
"aa_ref": "N",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13993,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 13761,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_006711735.4",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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": "D",
"aa_end": null,
"aa_length": 4584,
"aa_ref": "N",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13987,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 13755,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 86,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017000296.2",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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": "D",
"aa_end": null,
"aa_length": 4582,
"aa_ref": "N",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13981,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 13749,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 86,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011544061.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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": "D",
"aa_end": null,
"aa_length": 4578,
"aa_ref": "N",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13969,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 13737,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017000297.2",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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": "D",
"aa_end": null,
"aa_length": 4565,
"aa_ref": "N",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13930,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 13698,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 86,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011544062.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542364.1",
"strand": true,
"transcript": "XM_011544062.3",
"transcript_support_level": null
},
{
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"aa_length": 4564,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13927,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 13695,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011544063.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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": "D",
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"aa_length": 4561,
"aa_ref": "N",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13918,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 13686,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011544064.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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
},
{
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"aa_length": 4553,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13894,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 13662,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011544065.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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": "D",
"aa_end": null,
"aa_length": 4545,
"aa_ref": "N",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13870,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 13638,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011544066.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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": "D",
"aa_end": null,
"aa_length": 4541,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13858,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 13626,
"cds_start": 3295,
"consequences": [
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],
"exon_count": 85,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011544067.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542369.1",
"strand": true,
"transcript": "XM_011544067.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 3510,
"cds_end": null,
"cds_length": 13515,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047445624.1",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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": "D",
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"aa_length": 4499,
"aa_ref": "N",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13732,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 13500,
"cds_start": 3295,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011544069.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.3295A>G",
"hgvs_p": "p.Asn1099Asp",
"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": "D",
"aa_end": null,
"aa_length": 4491,
"aa_ref": "N",
"aa_start": 973,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13708,
"cdna_start": 3132,
"cds_end": null,
"cds_length": 13476,
"cds_start": 2917,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011544070.3",
"gene_hgnc_id": 2945,
"gene_symbol": "DNAH14",
"hgvs_c": "c.2917A>G",
"hgvs_p": "p.Asn973Asp",
"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": "D",
"aa_end": null,
"aa_length": 4441,
"aa_ref": "N",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13558,
"cdna_start": 2982,
"cds_end": null,
"cds_length": 13326,
"cds_start": 2767,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 17,
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