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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: 12-63626530-T-TAAAAAAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=63626530&ref=T&alt=TAAAAAAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 63626530,
"ref": "T",
"alt": "TAAAAAAA",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000324472.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.804-11_804-5dupTTTTTTT",
"hgvs_p": null,
"transcript": "NM_173812.5",
"protein_id": "NP_776173.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": -4,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": "ENST00000324472.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.804-5_804-4insTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000324472.9",
"protein_id": "ENSP00000315988.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": -4,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": "NM_173812.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "n.*287-5_*287-4insTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000306389.7",
"protein_id": "ENSP00000445878.1",
"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": 1549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000249753",
"gene_hgnc_id": null,
"hgvs_c": "n.239-2707_239-2706insTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000509615.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.804-11_804-5dupTTTTTTT",
"hgvs_p": null,
"transcript": "XM_024448944.2",
"protein_id": "XP_024304712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.804-11_804-5dupTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047428721.1",
"protein_id": "XP_047284677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": -4,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.804-11_804-5dupTTTTTTT",
"hgvs_p": null,
"transcript": "XM_024448945.2",
"protein_id": "XP_024304713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 716,
"cds_start": -4,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.804-5200_804-5194dupTTTTTTT",
"hgvs_p": null,
"transcript": "XM_017019192.3",
"protein_id": "XP_016874681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 708,
"cds_start": -4,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.501-11_501-5dupTTTTTTT",
"hgvs_p": null,
"transcript": "XM_017019193.3",
"protein_id": "XP_016874682.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 657,
"cds_start": -4,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
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"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.375-11_375-5dupTTTTTTT",
"hgvs_p": null,
"transcript": "XM_024448946.2",
"protein_id": "XP_024304714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 615,
"cds_start": -4,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
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"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.375-11_375-5dupTTTTTTT",
"hgvs_p": null,
"transcript": "XM_024448947.2",
"protein_id": "XP_024304715.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 615,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.375-11_375-5dupTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047428722.1",
"protein_id": "XP_047284678.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.804-11_804-5dupTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047428723.1",
"protein_id": "XP_047284679.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 597,
"cds_start": -4,
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"feature": null
},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "DPY19L2",
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"transcript": "XM_047428724.1",
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.291-11_291-5dupTTTTTTT",
"hgvs_p": null,
"transcript": "XM_011538215.3",
"protein_id": "XP_011536517.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 6,
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"gene_symbol": "DPY19L2",
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"hgvs_c": "c.804-11_804-5dupTTTTTTT",
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"transcript": "XM_047428725.1",
"protein_id": "XP_047284681.1",
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"cdna_start": null,
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},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.804-11_804-5dupTTTTTTT",
"hgvs_p": null,
"transcript": "XM_024448949.2",
"protein_id": "XP_024304717.1",
"transcript_support_level": null,
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"aa_length": 566,
"cds_start": -4,
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.804-11_804-5dupTTTTTTT",
"hgvs_p": null,
"transcript": "XM_024448950.2",
"protein_id": "XP_024304718.1",
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},
{
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "DPY19L2",
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"protein_id": "XP_024304719.1",
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},
{
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "DPY19L2",
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"hgvs_c": "c.804-11_804-5dupTTTTTTT",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.804-11_804-5dupTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047428726.1",
"protein_id": "XP_047284682.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": -4,
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"cds_length": 1608,
"cdna_start": null,
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"cdna_length": 5463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.804-11_804-5dupTTTTTTT",
"hgvs_p": null,
"transcript": "XM_024448953.2",
"protein_id": "XP_024304721.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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}
],
"message": null
}