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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: 2-171715328-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=171715328&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 171715328,
"ref": "A",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_001378.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Arg106Ser",
"transcript": "ENST00000340296.8",
"protein_id": "ENSP00000339430.4",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 612,
"cds_start": 318,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 2589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Arg106Ser",
"transcript": "ENST00000409197.5",
"protein_id": "ENSP00000386397.1",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 612,
"cds_start": 318,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Arg106Ser",
"transcript": "ENST00000508530.5",
"protein_id": "ENSP00000423339.1",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 611,
"cds_start": 318,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.396A>C",
"hgvs_p": "p.Gly132Gly",
"transcript": "NM_001378.3",
"protein_id": "NP_001369.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 638,
"cds_start": 396,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": "ENST00000397119.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.396A>C",
"hgvs_p": "p.Gly132Gly",
"transcript": "ENST00000397119.8",
"protein_id": "ENSP00000380308.3",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 638,
"cds_start": 396,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": "NM_001378.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "n.549A>C",
"hgvs_p": null,
"transcript": "ENST00000482454.5",
"protein_id": null,
"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": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.372A>C",
"hgvs_p": "p.Arg124Ser",
"transcript": "NM_001271786.2",
"protein_id": "NP_001258715.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 630,
"cds_start": 372,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.372A>C",
"hgvs_p": "p.Arg124Ser",
"transcript": "NM_001271787.2",
"protein_id": "NP_001258716.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 630,
"cds_start": 372,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 4290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.372A>C",
"hgvs_p": "p.Arg124Ser",
"transcript": "ENST00000410079.7",
"protein_id": "ENSP00000386522.3",
"transcript_support_level": 2,
"aa_start": 124,
"aa_end": null,
"aa_length": 630,
"cds_start": 372,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Arg106Ser",
"transcript": "NM_001271788.2",
"protein_id": "NP_001258717.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 612,
"cds_start": 318,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Arg106Ser",
"transcript": "NM_001271789.2",
"protein_id": "NP_001258718.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 612,
"cds_start": 318,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Arg106Ser",
"transcript": "NM_001271790.2",
"protein_id": "NP_001258719.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 611,
"cds_start": 318,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 4273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Arg106Ser",
"transcript": "NM_001320884.2",
"protein_id": "NP_001307813.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 611,
"cds_start": 318,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Arg106Ser",
"transcript": "ENST00000435234.5",
"protein_id": "ENSP00000410807.1",
"transcript_support_level": 3,
"aa_start": 106,
"aa_end": null,
"aa_length": 304,
"cds_start": 318,
"cds_end": null,
"cds_length": 915,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 1047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.372A>C",
"hgvs_p": "p.Arg124Ser",
"transcript": "ENST00000456808.5",
"protein_id": "ENSP00000388699.1",
"transcript_support_level": 4,
"aa_start": 124,
"aa_end": null,
"aa_length": 186,
"cds_start": 372,
"cds_end": null,
"cds_length": 563,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Arg106Ser",
"transcript": "ENST00000425485.5",
"protein_id": "ENSP00000394492.1",
"transcript_support_level": 3,
"aa_start": 106,
"aa_end": null,
"aa_length": 184,
"cds_start": 318,
"cds_end": null,
"cds_length": 557,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.372A>C",
"hgvs_p": "p.Arg124Ser",
"transcript": "ENST00000423910.5",
"protein_id": "ENSP00000397654.1",
"transcript_support_level": 3,
"aa_start": 124,
"aa_end": null,
"aa_length": 172,
"cds_start": 372,
"cds_end": null,
"cds_length": 520,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.372A>C",
"hgvs_p": "p.Arg124Ser",
"transcript": "ENST00000412370.5",
"protein_id": "ENSP00000406104.1",
"transcript_support_level": 4,
"aa_start": 124,
"aa_end": null,
"aa_length": 136,
"cds_start": 372,
"cds_end": null,
"cds_length": 412,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.396A>C",
"hgvs_p": "p.Gly132Gly",
"transcript": "NM_001271785.2",
"protein_id": "NP_001258714.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 638,
"cds_start": 396,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.396A>C",
"hgvs_p": "p.Gly132Gly",
"transcript": "ENST00000409773.5",
"protein_id": "ENSP00000386415.1",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 638,
"cds_start": 396,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.396A>C",
"hgvs_p": "p.Gly132Gly",
"transcript": "ENST00000409453.5",
"protein_id": "ENSP00000386886.1",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 637,
"cds_start": 396,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.378A>C",
"hgvs_p": "p.Gly126Gly",
"transcript": "NM_001320882.2",
"protein_id": "NP_001307811.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 632,
"cds_start": 378,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
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}
],
"message": null
}