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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: 1-225346646-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225346646&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 225346646,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000682510.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 71,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11288G>A",
"hgvs_p": "p.Arg3763Lys",
"transcript": "NM_001367479.1",
"protein_id": "NP_001354408.1",
"transcript_support_level": null,
"aa_start": 3763,
"aa_end": null,
"aa_length": 4617,
"cds_start": 11288,
"cds_end": null,
"cds_length": 13854,
"cdna_start": 11482,
"cdna_end": null,
"cdna_length": 14065,
"mane_select": "ENST00000682510.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 71,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11288G>A",
"hgvs_p": "p.Arg3763Lys",
"transcript": "ENST00000682510.1",
"protein_id": "ENSP00000508305.1",
"transcript_support_level": null,
"aa_start": 3763,
"aa_end": null,
"aa_length": 4617,
"cds_start": 11288,
"cds_end": null,
"cds_length": 13854,
"cdna_start": 11482,
"cdna_end": null,
"cdna_length": 14065,
"mane_select": "NM_001367479.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "n.4184G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11009G>A",
"hgvs_p": "p.Arg3670Lys",
"transcript": "ENST00000430092.5",
"protein_id": "ENSP00000414402.1",
"transcript_support_level": 5,
"aa_start": 3670,
"aa_end": null,
"aa_length": 4515,
"cds_start": 11009,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 11224,
"cdna_end": null,
"cdna_length": 13763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11009G>A",
"hgvs_p": "p.Arg3670Lys",
"transcript": "ENST00000439375.6",
"protein_id": "ENSP00000392061.2",
"transcript_support_level": 5,
"aa_start": 3670,
"aa_end": null,
"aa_length": 4515,
"cds_start": 11009,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 11009,
"cdna_end": null,
"cdna_length": 13548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.8600G>A",
"hgvs_p": "p.Arg2867Lys",
"transcript": "ENST00000445597.6",
"protein_id": "ENSP00000409472.2",
"transcript_support_level": 5,
"aa_start": 2867,
"aa_end": null,
"aa_length": 3507,
"cds_start": 8600,
"cds_end": null,
"cds_length": 10524,
"cdna_start": 8600,
"cdna_end": null,
"cdna_length": 10524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.4184G>A",
"hgvs_p": "p.Arg1395Lys",
"transcript": "ENST00000638635.1",
"protein_id": "ENSP00000492319.1",
"transcript_support_level": 5,
"aa_start": 1395,
"aa_end": null,
"aa_length": 1475,
"cds_start": 4184,
"cds_end": null,
"cds_length": 4429,
"cdna_start": 4185,
"cdna_end": null,
"cdna_length": 4430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 71,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11285G>A",
"hgvs_p": "p.Arg3762Lys",
"transcript": "XM_011544058.3",
"protein_id": "XP_011542360.1",
"transcript_support_level": null,
"aa_start": 3762,
"aa_end": null,
"aa_length": 4616,
"cds_start": 11285,
"cds_end": null,
"cds_length": 13851,
"cdna_start": 11500,
"cdna_end": null,
"cdna_length": 14083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 71,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11240G>A",
"hgvs_p": "p.Arg3747Lys",
"transcript": "XM_011544059.3",
"protein_id": "XP_011542361.1",
"transcript_support_level": null,
"aa_start": 3747,
"aa_end": null,
"aa_length": 4601,
"cds_start": 11240,
"cds_end": null,
"cds_length": 13806,
"cdna_start": 11455,
"cdna_end": null,
"cdna_length": 14038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11213G>A",
"hgvs_p": "p.Arg3738Lys",
"transcript": "XM_017000295.2",
"protein_id": "XP_016855784.1",
"transcript_support_level": null,
"aa_start": 3738,
"aa_end": null,
"aa_length": 4592,
"cds_start": 11213,
"cds_end": null,
"cds_length": 13779,
"cdna_start": 11428,
"cdna_end": null,
"cdna_length": 14011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11195G>A",
"hgvs_p": "p.Arg3732Lys",
"transcript": "XM_006711735.4",
"protein_id": "XP_006711798.1",
"transcript_support_level": null,
"aa_start": 3732,
"aa_end": null,
"aa_length": 4586,
"cds_start": 11195,
"cds_end": null,
"cds_length": 13761,
"cdna_start": 11410,
"cdna_end": null,
"cdna_length": 13993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 71,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11189G>A",
"hgvs_p": "p.Arg3730Lys",
"transcript": "XM_017000296.2",
"protein_id": "XP_016855785.1",
"transcript_support_level": null,
"aa_start": 3730,
"aa_end": null,
"aa_length": 4584,
"cds_start": 11189,
"cds_end": null,
"cds_length": 13755,
"cdna_start": 11404,
"cdna_end": null,
"cdna_length": 13987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 71,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11183G>A",
"hgvs_p": "p.Arg3728Lys",
"transcript": "XM_011544061.3",
"protein_id": "XP_011542363.1",
"transcript_support_level": null,
"aa_start": 3728,
"aa_end": null,
"aa_length": 4582,
"cds_start": 11183,
"cds_end": null,
"cds_length": 13749,
"cdna_start": 11398,
"cdna_end": null,
"cdna_length": 13981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11171G>A",
"hgvs_p": "p.Arg3724Lys",
"transcript": "XM_017000297.2",
"protein_id": "XP_016855786.1",
"transcript_support_level": null,
"aa_start": 3724,
"aa_end": null,
"aa_length": 4578,
"cds_start": 11171,
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"cds_length": 13737,
"cdna_start": 11386,
"cdna_end": null,
"cdna_length": 13969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 71,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11288G>A",
"hgvs_p": "p.Arg3763Lys",
"transcript": "XM_011544062.3",
"protein_id": "XP_011542364.1",
"transcript_support_level": null,
"aa_start": 3763,
"aa_end": null,
"aa_length": 4565,
"cds_start": 11288,
"cds_end": null,
"cds_length": 13698,
"cdna_start": 11503,
"cdna_end": null,
"cdna_length": 13930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11129G>A",
"hgvs_p": "p.Arg3710Lys",
"transcript": "XM_011544063.3",
"protein_id": "XP_011542365.1",
"transcript_support_level": null,
"aa_start": 3710,
"aa_end": null,
"aa_length": 4564,
"cds_start": 11129,
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"cdna_start": 11344,
"cdna_end": null,
"cdna_length": 13927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11120G>A",
"hgvs_p": "p.Arg3707Lys",
"transcript": "XM_011544064.3",
"protein_id": "XP_011542366.1",
"transcript_support_level": null,
"aa_start": 3707,
"aa_end": null,
"aa_length": 4561,
"cds_start": 11120,
"cds_end": null,
"cds_length": 13686,
"cdna_start": 11335,
"cdna_end": null,
"cdna_length": 13918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11096G>A",
"hgvs_p": "p.Arg3699Lys",
"transcript": "XM_011544065.3",
"protein_id": "XP_011542367.1",
"transcript_support_level": null,
"aa_start": 3699,
"aa_end": null,
"aa_length": 4553,
"cds_start": 11096,
"cds_end": null,
"cds_length": 13662,
"cdna_start": 11311,
"cdna_end": null,
"cdna_length": 13894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11072G>A",
"hgvs_p": "p.Arg3691Lys",
"transcript": "XM_011544066.3",
"protein_id": "XP_011542368.1",
"transcript_support_level": null,
"aa_start": 3691,
"aa_end": null,
"aa_length": 4545,
"cds_start": 11072,
"cds_end": null,
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"cdna_start": 11287,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 71,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11288G>A",
"hgvs_p": "p.Arg3763Lys",
"transcript": "XM_011544067.3",
"protein_id": "XP_011542369.1",
"transcript_support_level": null,
"aa_start": 3763,
"aa_end": null,
"aa_length": 4541,
"cds_start": 11288,
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"cdna_start": 11503,
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"cdna_length": 13858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 71,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11288G>A",
"hgvs_p": "p.Arg3763Lys",
"transcript": "XM_047445624.1",
"protein_id": "XP_047301580.1",
"transcript_support_level": null,
"aa_start": 3763,
"aa_end": null,
"aa_length": 4504,
"cds_start": 11288,
"cds_end": null,
"cds_length": 13515,
"cdna_start": 11503,
"cdna_end": null,
"cdna_length": 13805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.10934G>A",
"hgvs_p": "p.Arg3645Lys",
"transcript": "XM_011544069.3",
"protein_id": "XP_011542371.1",
"transcript_support_level": null,
"aa_start": 3645,
"aa_end": null,
"aa_length": 4499,
"cds_start": 10934,
"cds_end": null,
"cds_length": 13500,
"cdna_start": 11149,
"cdna_end": null,
"cdna_length": 13732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
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],
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000682510.1",
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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
}