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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: 2-164694682-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=164694682&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 164694682,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001278458.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2710G>A",
"hgvs_p": "p.Ala904Thr",
"transcript": "NM_001365672.2",
"protein_id": "NP_001352601.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2710,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000652658.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365672.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2710G>A",
"hgvs_p": "p.Ala904Thr",
"transcript": "ENST00000652658.2",
"protein_id": "ENSP00000498242.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2710,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365672.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652658.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2848G>A",
"hgvs_p": "p.Ala950Thr",
"transcript": "ENST00000409184.8",
"protein_id": "ENSP00000387326.5",
"transcript_support_level": 1,
"aa_start": 950,
"aa_end": null,
"aa_length": 1174,
"cds_start": 2848,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409184.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2824G>A",
"hgvs_p": "p.Ala942Thr",
"transcript": "ENST00000342193.8",
"protein_id": "ENSP00000341360.4",
"transcript_support_level": 1,
"aa_start": 942,
"aa_end": null,
"aa_length": 1166,
"cds_start": 2824,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342193.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2710G>A",
"hgvs_p": "p.Ala904Thr",
"transcript": "ENST00000375458.6",
"protein_id": "ENSP00000364607.2",
"transcript_support_level": 1,
"aa_start": 904,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2710,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375458.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "n.3619G>A",
"hgvs_p": null,
"transcript": "ENST00000489955.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489955.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "n.4534G>A",
"hgvs_p": null,
"transcript": "ENST00000493868.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000493868.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.3025G>A",
"hgvs_p": "p.Ala1009Thr",
"transcript": "NM_001278458.2",
"protein_id": "NP_001265387.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3025,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278458.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.3025G>A",
"hgvs_p": "p.Ala1009Thr",
"transcript": "ENST00000629362.2",
"protein_id": "ENSP00000487041.2",
"transcript_support_level": 2,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3025,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629362.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2866G>A",
"hgvs_p": "p.Ala956Thr",
"transcript": "ENST00000861285.1",
"protein_id": "ENSP00000531344.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1180,
"cds_start": 2866,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861285.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2866G>A",
"hgvs_p": "p.Ala956Thr",
"transcript": "ENST00000946165.1",
"protein_id": "ENSP00000616224.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1180,
"cds_start": 2866,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946165.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2848G>A",
"hgvs_p": "p.Ala950Thr",
"transcript": "NM_001278460.2",
"protein_id": "NP_001265389.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1174,
"cds_start": 2848,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278460.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2845G>A",
"hgvs_p": "p.Ala949Thr",
"transcript": "NM_001365670.2",
"protein_id": "NP_001352599.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1173,
"cds_start": 2845,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365670.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2827G>A",
"hgvs_p": "p.Ala943Thr",
"transcript": "ENST00000861281.1",
"protein_id": "ENSP00000531340.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2827,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861281.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2827G>A",
"hgvs_p": "p.Ala943Thr",
"transcript": "ENST00000861283.1",
"protein_id": "ENSP00000531342.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2827,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861283.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2827G>A",
"hgvs_p": "p.Ala943Thr",
"transcript": "ENST00000861287.1",
"protein_id": "ENSP00000531346.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2827,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861287.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2824G>A",
"hgvs_p": "p.Ala942Thr",
"transcript": "NM_014900.5",
"protein_id": "NP_055715.3",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1166,
"cds_start": 2824,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014900.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2887G>A",
"hgvs_p": "p.Ala963Thr",
"transcript": "NM_001365671.1",
"protein_id": "NP_001352600.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2887,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365671.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2749G>A",
"hgvs_p": "p.Ala917Thr",
"transcript": "NM_001365674.2",
"protein_id": "NP_001352603.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2749,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365674.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2749G>A",
"hgvs_p": "p.Ala917Thr",
"transcript": "NM_001365675.2",
"protein_id": "NP_001352604.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2749,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365675.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2749G>A",
"hgvs_p": "p.Ala917Thr",
"transcript": "ENST00000861277.1",
"protein_id": "ENSP00000531336.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2749,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861277.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2749G>A",
"hgvs_p": "p.Ala917Thr",
"transcript": "ENST00000861280.1",
"protein_id": "ENSP00000531339.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1141,
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"phenotype_combined": "not specified",
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}
],
"message": null
}