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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: X-31178770-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=31178770&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 31178770,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000357033.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10121delA",
"hgvs_p": "p.Lys3374fs",
"transcript": "NM_004006.3",
"protein_id": "NP_003997.2",
"transcript_support_level": null,
"aa_start": 3374,
"aa_end": null,
"aa_length": 3685,
"cds_start": 10121,
"cds_end": null,
"cds_length": 11058,
"cdna_start": 10358,
"cdna_end": null,
"cdna_length": 13992,
"mane_select": "ENST00000357033.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10121delA",
"hgvs_p": "p.Lys3374fs",
"transcript": "ENST00000357033.9",
"protein_id": "ENSP00000354923.3",
"transcript_support_level": 1,
"aa_start": 3374,
"aa_end": null,
"aa_length": 3685,
"cds_start": 10121,
"cds_end": null,
"cds_length": 11058,
"cdna_start": 10358,
"cdna_end": null,
"cdna_length": 13992,
"mane_select": "NM_004006.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.917delA",
"hgvs_p": "p.Lys306fs",
"transcript": "ENST00000378723.7",
"protein_id": "ENSP00000367997.3",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 635,
"cds_start": 917,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.917delA",
"hgvs_p": "p.Lys306fs",
"transcript": "ENST00000361471.8",
"protein_id": "ENSP00000354464.4",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 622,
"cds_start": 917,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.917delA",
"hgvs_p": "p.Lys306fs",
"transcript": "ENST00000378702.8",
"protein_id": "ENSP00000367974.4",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 617,
"cds_start": 917,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.917delA",
"hgvs_p": "p.Lys306fs",
"transcript": "ENST00000378680.6",
"protein_id": "ENSP00000367951.2",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 525,
"cds_start": 917,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10109delA",
"hgvs_p": "p.Lys3370fs",
"transcript": "NM_004009.3",
"protein_id": "NP_004000.1",
"transcript_support_level": null,
"aa_start": 3370,
"aa_end": null,
"aa_length": 3681,
"cds_start": 10109,
"cds_end": null,
"cds_length": 11046,
"cdna_start": 10372,
"cdna_end": null,
"cdna_length": 14000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10109delA",
"hgvs_p": "p.Lys3370fs",
"transcript": "ENST00000378677.6",
"protein_id": "ENSP00000367948.2",
"transcript_support_level": 5,
"aa_start": 3370,
"aa_end": null,
"aa_length": 3681,
"cds_start": 10109,
"cds_end": null,
"cds_length": 11046,
"cdna_start": 10304,
"cdna_end": null,
"cdna_length": 13932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10097delA",
"hgvs_p": "p.Lys3366fs",
"transcript": "NM_000109.4",
"protein_id": "NP_000100.3",
"transcript_support_level": null,
"aa_start": 3366,
"aa_end": null,
"aa_length": 3677,
"cds_start": 10097,
"cds_end": null,
"cds_length": 11034,
"cdna_start": 10220,
"cdna_end": null,
"cdna_length": 13854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.9752delA",
"hgvs_p": "p.Lys3251fs",
"transcript": "NM_004010.3",
"protein_id": "NP_004001.1",
"transcript_support_level": null,
"aa_start": 3251,
"aa_end": null,
"aa_length": 3562,
"cds_start": 9752,
"cds_end": null,
"cds_length": 10689,
"cdna_start": 10455,
"cdna_end": null,
"cdna_length": 14083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6098delA",
"hgvs_p": "p.Lys2033fs",
"transcript": "NM_004011.4",
"protein_id": "NP_004002.3",
"transcript_support_level": null,
"aa_start": 2033,
"aa_end": null,
"aa_length": 2344,
"cds_start": 6098,
"cds_end": null,
"cds_length": 7035,
"cdna_start": 6117,
"cdna_end": null,
"cdna_length": 9751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6089delA",
"hgvs_p": "p.Lys2030fs",
"transcript": "NM_004012.4",
"protein_id": "NP_004003.2",
"transcript_support_level": null,
"aa_start": 2030,
"aa_end": null,
"aa_length": 2341,
"cds_start": 6089,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 6260,
"cdna_end": null,
"cdna_length": 9894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6089delA",
"hgvs_p": "p.Lys2030fs",
"transcript": "ENST00000619831.5",
"protein_id": "ENSP00000479270.2",
"transcript_support_level": 5,
"aa_start": 2030,
"aa_end": null,
"aa_length": 2341,
"cds_start": 6089,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 6269,
"cdna_end": null,
"cdna_length": 9903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4967delA",
"hgvs_p": "p.Lys1656fs",
"transcript": "ENST00000358062.7",
"protein_id": "ENSP00000350765.3",
"transcript_support_level": 5,
"aa_start": 1656,
"aa_end": null,
"aa_length": 1972,
"cds_start": 4967,
"cds_end": null,
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"cdna_start": 4967,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2741delA",
"hgvs_p": "p.Lys914fs",
"transcript": "NM_004021.3",
"protein_id": "NP_004012.2",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2741,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 3782,
"cdna_end": null,
"cdna_length": 7384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2741delA",
"hgvs_p": "p.Lys914fs",
"transcript": "ENST00000474231.5",
"protein_id": "ENSP00000417123.1",
"transcript_support_level": 5,
"aa_start": 914,
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"cds_start": 2741,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2741delA",
"hgvs_p": "p.Lys914fs",
"transcript": "NM_004022.3",
"protein_id": "NP_004013.2",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2741,
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"cds_length": 3693,
"cdna_start": 3782,
"cdna_end": null,
"cdna_length": 7345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2741delA",
"hgvs_p": "p.Lys914fs",
"transcript": "ENST00000359836.5",
"protein_id": "ENSP00000352894.1",
"transcript_support_level": 5,
"aa_start": 914,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2741,
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"cdna_start": 3782,
"cdna_end": null,
"cdna_length": 7339,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2741delA",
"hgvs_p": "p.Lys914fs",
"transcript": "NM_004013.3",
"protein_id": "NP_004004.2",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1225,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2741delA",
"hgvs_p": "p.Lys914fs",
"transcript": "ENST00000378707.7",
"protein_id": "ENSP00000367979.3",
"transcript_support_level": 5,
"aa_start": 914,
"aa_end": null,
"aa_length": 1225,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2741delA",
"hgvs_p": "p.Lys914fs",
"transcript": "ENST00000684130.1",
"protein_id": "ENSP00000508037.1",
"transcript_support_level": null,
"aa_start": 914,
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"cds_start": 2741,
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"cdna_start": 3782,
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"cdna_length": 7361,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2741delA",
"hgvs_p": "p.Lys914fs",
"transcript": "ENST00000620040.5",
"protein_id": "ENSP00000478150.2",
"transcript_support_level": 5,
"aa_start": 914,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2741,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 3782,
"cdna_end": null,
"cdna_length": 6941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2741delA",
"hgvs_p": "p.Lys914fs",
"transcript": "NM_004023.3",
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{
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"PM2",
"PP5_Moderate"
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"verdict": "Pathogenic",
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"inheritance_mode": "XL,AD",
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{
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"PP5_Moderate"
],
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"effects": [
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"inheritance_mode": "",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}