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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-31147347-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=31147347&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 31147347,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000357033.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10725G>A",
"hgvs_p": "p.Arg3575Arg",
"transcript": "NM_004006.3",
"protein_id": "NP_003997.2",
"transcript_support_level": null,
"aa_start": 3575,
"aa_end": null,
"aa_length": 3685,
"cds_start": 10725,
"cds_end": null,
"cds_length": 11058,
"cdna_start": 10962,
"cdna_end": null,
"cdna_length": 13992,
"mane_select": "ENST00000357033.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10725G>A",
"hgvs_p": "p.Arg3575Arg",
"transcript": "ENST00000357033.9",
"protein_id": "ENSP00000354923.3",
"transcript_support_level": 1,
"aa_start": 3575,
"aa_end": null,
"aa_length": 3685,
"cds_start": 10725,
"cds_end": null,
"cds_length": 11058,
"cdna_start": 10962,
"cdna_end": null,
"cdna_length": 13992,
"mane_select": "NM_004006.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.1521G>A",
"hgvs_p": "p.Arg507Arg",
"transcript": "ENST00000378723.7",
"protein_id": "ENSP00000367997.3",
"transcript_support_level": 1,
"aa_start": 507,
"aa_end": null,
"aa_length": 635,
"cds_start": 1521,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.1482G>A",
"hgvs_p": "p.Arg494Arg",
"transcript": "ENST00000361471.8",
"protein_id": "ENSP00000354464.4",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 622,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.1521G>A",
"hgvs_p": "p.Arg507Arg",
"transcript": "ENST00000378702.8",
"protein_id": "ENSP00000367974.4",
"transcript_support_level": 1,
"aa_start": 507,
"aa_end": null,
"aa_length": 617,
"cds_start": 1521,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.1191G>A",
"hgvs_p": "p.Arg397Arg",
"transcript": "ENST00000378680.6",
"protein_id": "ENSP00000367951.2",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 525,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10713G>A",
"hgvs_p": "p.Arg3571Arg",
"transcript": "NM_004009.3",
"protein_id": "NP_004000.1",
"transcript_support_level": null,
"aa_start": 3571,
"aa_end": null,
"aa_length": 3681,
"cds_start": 10713,
"cds_end": null,
"cds_length": 11046,
"cdna_start": 10976,
"cdna_end": null,
"cdna_length": 14000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10713G>A",
"hgvs_p": "p.Arg3571Arg",
"transcript": "ENST00000378677.6",
"protein_id": "ENSP00000367948.2",
"transcript_support_level": 5,
"aa_start": 3571,
"aa_end": null,
"aa_length": 3681,
"cds_start": 10713,
"cds_end": null,
"cds_length": 11046,
"cdna_start": 10908,
"cdna_end": null,
"cdna_length": 13932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10701G>A",
"hgvs_p": "p.Arg3567Arg",
"transcript": "NM_000109.4",
"protein_id": "NP_000100.3",
"transcript_support_level": null,
"aa_start": 3567,
"aa_end": null,
"aa_length": 3677,
"cds_start": 10701,
"cds_end": null,
"cds_length": 11034,
"cdna_start": 10824,
"cdna_end": null,
"cdna_length": 13854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10356G>A",
"hgvs_p": "p.Arg3452Arg",
"transcript": "NM_004010.3",
"protein_id": "NP_004001.1",
"transcript_support_level": null,
"aa_start": 3452,
"aa_end": null,
"aa_length": 3562,
"cds_start": 10356,
"cds_end": null,
"cds_length": 10689,
"cdna_start": 11059,
"cdna_end": null,
"cdna_length": 14083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6702G>A",
"hgvs_p": "p.Arg2234Arg",
"transcript": "NM_004011.4",
"protein_id": "NP_004002.3",
"transcript_support_level": null,
"aa_start": 2234,
"aa_end": null,
"aa_length": 2344,
"cds_start": 6702,
"cds_end": null,
"cds_length": 7035,
"cdna_start": 6721,
"cdna_end": null,
"cdna_length": 9751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6693G>A",
"hgvs_p": "p.Arg2231Arg",
"transcript": "NM_004012.4",
"protein_id": "NP_004003.2",
"transcript_support_level": null,
"aa_start": 2231,
"aa_end": null,
"aa_length": 2341,
"cds_start": 6693,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 6864,
"cdna_end": null,
"cdna_length": 9894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6693G>A",
"hgvs_p": "p.Arg2231Arg",
"transcript": "ENST00000619831.5",
"protein_id": "ENSP00000479270.2",
"transcript_support_level": 5,
"aa_start": 2231,
"aa_end": null,
"aa_length": 2341,
"cds_start": 6693,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 6873,
"cdna_end": null,
"cdna_length": 9903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.5532G>A",
"hgvs_p": "p.Arg1844Arg",
"transcript": "ENST00000358062.7",
"protein_id": "ENSP00000350765.3",
"transcript_support_level": 5,
"aa_start": 1844,
"aa_end": null,
"aa_length": 1972,
"cds_start": 5532,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 5532,
"cdna_end": null,
"cdna_length": 8531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3345G>A",
"hgvs_p": "p.Arg1115Arg",
"transcript": "NM_004021.3",
"protein_id": "NP_004012.2",
"transcript_support_level": null,
"aa_start": 1115,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3345,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 4386,
"cdna_end": null,
"cdna_length": 7384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3345G>A",
"hgvs_p": "p.Arg1115Arg",
"transcript": "ENST00000474231.5",
"protein_id": "ENSP00000417123.1",
"transcript_support_level": 5,
"aa_start": 1115,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3345,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 4386,
"cdna_end": null,
"cdna_length": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3306G>A",
"hgvs_p": "p.Arg1102Arg",
"transcript": "NM_004022.3",
"protein_id": "NP_004013.2",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3306,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 4347,
"cdna_end": null,
"cdna_length": 7345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3306G>A",
"hgvs_p": "p.Arg1102Arg",
"transcript": "ENST00000359836.5",
"protein_id": "ENSP00000352894.1",
"transcript_support_level": 5,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3306,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 4347,
"cdna_end": null,
"cdna_length": 7339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3345G>A",
"hgvs_p": "p.Arg1115Arg",
"transcript": "NM_004013.3",
"protein_id": "NP_004004.2",
"transcript_support_level": null,
"aa_start": 1115,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3345,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 4386,
"cdna_end": null,
"cdna_length": 7416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3345G>A",
"hgvs_p": "p.Arg1115Arg",
"transcript": "ENST00000378707.7",
"protein_id": "ENSP00000367979.3",
"transcript_support_level": 5,
"aa_start": 1115,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3345,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 4386,
"cdna_end": null,
"cdna_length": 7410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3306G>A",
"hgvs_p": "p.Arg1102Arg",
"transcript": "ENST00000684130.1",
"protein_id": "ENSP00000508037.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3306,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4347,
"cdna_end": null,
"cdna_length": 7361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3306G>A",
"hgvs_p": "p.Arg1102Arg",
"transcript": "ENST00000620040.5",
"protein_id": "ENSP00000478150.2",
"transcript_support_level": 5,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3306,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 4347,
"cdna_end": null,
"cdna_length": 6941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3015G>A",
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"hgvs_c": "n.228-21574C>T",
"hgvs_p": null,
"transcript": "ENST00000746482.1",
"protein_id": null,
"transcript_support_level": null,
"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": 635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"dbsnp": "rs147346696",
"frequency_reference_population": 0.000005794088,
"hom_count_reference_population": 3,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000455341,
"gnomad_genomes_af": 0.0000181734,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.192,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.063,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6_Very_Strong,BP7,BS2_Supporting",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6_Very_Strong",
"BP7",
"BS2_Supporting"
],
"verdict": "Benign",
"transcript": "ENST00000357033.9",
"gene_symbol": "DMD",
"hgnc_id": 2928,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.10725G>A",
"hgvs_p": "p.Arg3575Arg"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000746482.1",
"gene_symbol": "ENSG00000297249",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.228-21574C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiovascular phenotype,Duchenne muscular dystrophy,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not provided|Duchenne muscular dystrophy|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}